SNP Links for Protein (Select 767918496) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 272

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Select item 14875766461.

rs1487576646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:188582459 (GRCh38)
2:189447186 (GRCh37)
Canonical SPDI:: NC_000002.12:188582458:C:A,NC_000002.12:188582458:C:T
Gene:: GULP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.188582459C>A, NC_000002.12:g.188582459C>T, NC_000002.11:g.189447186C>A, NC_000002.11:g.189447186C>T, XM_006712583.5:c.728C>A, XM_006712583.5:c.728C>T, XM_006712583.4:c.728C>A, XM_006712583.4:c.728C>T, XM_006712583.3:c.728C>A, XM_006712583.3:c.728C>T, XM_006712583.2:c.728C>A, XM_006712583.2:c.728C>T, XM_006712583.1:c.728C>A, XM_006712583.1:c.728C>T, XM_006712584.5:c.728C>A, XM_006712584.5:c.728C>T, XM_006712584.4:c.728C>A, XM_006712584.4:c.728C>T, XM_006712584.3:c.728C>A, XM_006712584.3:c.728C>T, XM_006712584.2:c.728C>A, XM_006712584.2:c.728C>T, XM_006712584.1:c.728C>A, XM_006712584.1:c.728C>T, XM_006712580.5:c.728C>A, XM_006712580.5:c.728C>T, XM_006712580.4:c.728C>A, XM_006712580.4:c.728C>T, XM_006712580.3:c.728C>A, XM_006712580.3:c.728C>T, XM_006712580.2:c.728C>A, XM_006712580.2:c.728C>T, XM_006712580.1:c.728C>A, XM_006712580.1:c.728C>T, XM_006712582.2:c.728C>A, XM_006712582.2:c.728C>T, XM_006712582.1:c.728C>A, XM_006712582.1:c.728C>T, XM_011511333.2:c.590C>A, XM_011511333.2:c.590C>T, XM_011511333.1:c.590C>A, XM_011511333.1:c.590C>T, XM_011511331.2:c.689C>A, XM_011511331.2:c.689C>T, XM_011511331.1:c.689C>A, XM_011511331.1:c.689C>T, XM_011511329.2:c.728C>A, XM_011511329.2:c.728C>T, XM_011511329.1:c.728C>A, XM_011511329.1:c.728C>T, NM_001375936.1:c.728C>A, NM_001375936.1:c.728C>T, NM_001375941.1:c.752C>A, NM_001375941.1:c.752C>T, NM_001375951.1:c.668C>A, NM_001375951.1:c.668C>T, NM_001375942.1:c.752C>A, NM_001375942.1:c.752C>T, NM_001375934.1:c.728C>A, NM_001375934.1:c.728C>T, NM_001375939.1:c.728C>A, NM_001375939.1:c.728C>T, NM_001375949.1:c.728C>A, NM_001375949.1:c.728C>T, NM_001375933.1:c.728C>A, NM_001375933.1:c.728C>T, NM_001375940.1:c.752C>A, NM_001375940.1:c.752C>T, NM_001375943.1:c.752C>A, NM_001375943.1:c.752C>T, NM_001375932.1:c.728C>A, NM_001375932.1:c.728C>T, NM_001375938.1:c.728C>A, NM_001375938.1:c.728C>T, NM_001375948.1:c.728C>A, NM_001375948.1:c.728C>T, NM_001375935.1:c.728C>A, NM_001375935.1:c.728C>T, XM_047444696.1:c.590C>A, XM_047444696.1:c.590C>T, NM_001375953.1:c.614C>A, NM_001375953.1:c.614C>T, NM_001375937.1:c.728C>A, NM_001375937.1:c.728C>T, XM_047444715.1:c.590C>A, XM_047444715.1:c.590C>T, XM_047444695.1:c.590C>A, XM_047444695.1:c.590C>T, XM_047444693.1:c.644C>A, XM_047444693.1:c.644C>T, NM_001375952.1:c.656C>A, NM_001375952.1:c.656C>T, XM_047444694.1:c.644C>A, XM_047444694.1:c.644C>T, XM_047444692.1:c.728C>A, XM_047444692.1:c.728C>T, XM_047444697.1:c.590C>A, XM_047444697.1:c.590C>T, XM_047444691.1:c.728C>A, XM_047444691.1:c.728C>T, XP_006712646.1:p.Pro243His, XP_006712646.1:p.Pro243Leu, XP_006712647.1:p.Pro243His, XP_006712647.1:p.Pro243Leu, XP_006712643.1:p.Pro243His, XP_006712643.1:p.Pro243Leu, XP_006712645.1:p.Pro243His, XP_006712645.1:p.Pro243Leu, XP_011509635.1:p.Pro197His, XP_011509635.1:p.Pro197Leu, XP_011509633.1:p.Pro230His, XP_011509633.1:p.Pro230Leu, XP_011509631.1:p.Pro243His, XP_011509631.1:p.Pro243Leu, NP_001362865.1:p.Pro243His, NP_001362865.1:p.Pro243Leu, NP_001362870.1:p.Pro251His, NP_001362870.1:p.Pro251Leu, NP_001362880.1:p.Pro223His, NP_001362880.1:p.Pro223Leu, NP_001362871.1:p.Pro251His, NP_001362871.1:p.Pro251Leu, NP_001362863.1:p.Pro243His, NP_001362863.1:p.Pro243Leu, NP_001362868.1:p.Pro243His, NP_001362868.1:p.Pro243Leu, NP_001362878.1:p.Pro243His, NP_001362878.1:p.Pro243Leu, NP_001362862.1:p.Pro243His, NP_001362862.1:p.Pro243Leu, NP_001362869.1:p.Pro251His, NP_001362869.1:p.Pro251Leu, NP_001362872.1:p.Pro251His, NP_001362872.1:p.Pro251Leu, NP_001362861.1:p.Pro243His, NP_001362861.1:p.Pro243Leu, NP_001362867.1:p.Pro243His, NP_001362867.1:p.Pro243Leu, NP_001362877.1:p.Pro243His, NP_001362877.1:p.Pro243Leu, NP_001362864.1:p.Pro243His, NP_001362864.1:p.Pro243Leu, XP_047300652.1:p.Pro197His, XP_047300652.1:p.Pro197Leu, NP_001362882.1:p.Pro205His, NP_001362882.1:p.Pro205Leu, NP_001362866.1:p.Pro243His, NP_001362866.1:p.Pro243Leu, XP_047300671.1:p.Pro197His, XP_047300671.1:p.Pro197Leu, XP_047300651.1:p.Pro197His, XP_047300651.1:p.Pro197Leu, XP_047300649.1:p.Pro215His, XP_047300649.1:p.Pro215Leu, NP_001362881.1:p.Pro219His, NP_001362881.1:p.Pro219Leu, XP_047300650.1:p.Pro215His, XP_047300650.1:p.Pro215Leu, XP_047300648.1:p.Pro243His, XP_047300648.1:p.Pro243Leu, XP_047300653.1:p.Pro197His, XP_047300653.1:p.Pro197Leu, XP_047300647.1:p.Pro243His, XP_047300647.1:p.Pro243Leu

Select item 14724687862.

rs1472468786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188582469 (GRCh38)
2:189447196 (GRCh37)
Canonical SPDI:: NC_000002.12:188582468:G:A
Gene:: GULP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000013/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.188582469G>A, NC_000002.11:g.189447196G>A, XM_006712583.5:c.738G>A, XM_006712583.4:c.738G>A, XM_006712583.3:c.738G>A, XM_006712583.2:c.738G>A, XM_006712583.1:c.738G>A, XM_006712584.5:c.738G>A, XM_006712584.4:c.738G>A, XM_006712584.3:c.738G>A, XM_006712584.2:c.738G>A, XM_006712584.1:c.738G>A, XM_006712580.5:c.738G>A, XM_006712580.4:c.738G>A, XM_006712580.3:c.738G>A, XM_006712580.2:c.738G>A, XM_006712580.1:c.738G>A, XM_006712582.2:c.738G>A, XM_006712582.1:c.738G>A, XM_011511333.2:c.600G>A, XM_011511333.1:c.600G>A, XM_011511331.2:c.699G>A, XM_011511331.1:c.699G>A, XM_011511329.2:c.738G>A, XM_011511329.1:c.738G>A, NM_001375936.1:c.738G>A, NM_001375941.1:c.762G>A, NM_001375951.1:c.678G>A, NM_001375942.1:c.762G>A, NM_001375934.1:c.738G>A, NM_001375939.1:c.738G>A, NM_001375949.1:c.738G>A, NM_001375933.1:c.738G>A, NM_001375940.1:c.762G>A, NM_001375943.1:c.762G>A, NM_001375932.1:c.738G>A, NM_001375938.1:c.738G>A, NM_001375948.1:c.738G>A, NM_001375935.1:c.738G>A, XM_047444696.1:c.600G>A, NM_001375953.1:c.624G>A, NM_001375937.1:c.738G>A, XM_047444715.1:c.600G>A, XM_047444695.1:c.600G>A, XM_047444693.1:c.654G>A, NM_001375952.1:c.666G>A, XM_047444694.1:c.654G>A, XM_047444692.1:c.738G>A, XM_047444697.1:c.600G>A, XM_047444691.1:c.738G>A

Select item 14699934503.

rs1469993450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:188582447 (GRCh38)
2:189447174 (GRCh37)
Canonical SPDI:: NC_000002.12:188582446:T:A,NC_000002.12:188582446:T:C
Gene:: GULP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.188582447T>A, NC_000002.12:g.188582447T>C, NC_000002.11:g.189447174T>A, NC_000002.11:g.189447174T>C, XM_006712583.5:c.716T>A, XM_006712583.5:c.716T>C, XM_006712583.4:c.716T>A, XM_006712583.4:c.716T>C, XM_006712583.3:c.716T>A, XM_006712583.3:c.716T>C, XM_006712583.2:c.716T>A, XM_006712583.2:c.716T>C, XM_006712583.1:c.716T>A, XM_006712583.1:c.716T>C, XM_006712584.5:c.716T>A, XM_006712584.5:c.716T>C, XM_006712584.4:c.716T>A, XM_006712584.4:c.716T>C, XM_006712584.3:c.716T>A, XM_006712584.3:c.716T>C, XM_006712584.2:c.716T>A, XM_006712584.2:c.716T>C, XM_006712584.1:c.716T>A, XM_006712584.1:c.716T>C, XM_006712580.5:c.716T>A, XM_006712580.5:c.716T>C, XM_006712580.4:c.716T>A, XM_006712580.4:c.716T>C, XM_006712580.3:c.716T>A, XM_006712580.3:c.716T>C, XM_006712580.2:c.716T>A, XM_006712580.2:c.716T>C, XM_006712580.1:c.716T>A, XM_006712580.1:c.716T>C, XM_006712582.2:c.716T>A, XM_006712582.2:c.716T>C, XM_006712582.1:c.716T>A, XM_006712582.1:c.716T>C, XM_011511333.2:c.578T>A, XM_011511333.2:c.578T>C, XM_011511333.1:c.578T>A, XM_011511333.1:c.578T>C, XM_011511331.2:c.677T>A, XM_011511331.2:c.677T>C, XM_011511331.1:c.677T>A, XM_011511331.1:c.677T>C, XM_011511329.2:c.716T>A, XM_011511329.2:c.716T>C, XM_011511329.1:c.716T>A, XM_011511329.1:c.716T>C, NM_001375936.1:c.716T>A, NM_001375936.1:c.716T>C, NM_001375941.1:c.740T>A, NM_001375941.1:c.740T>C, NM_001375951.1:c.656T>A, NM_001375951.1:c.656T>C, NM_001375942.1:c.740T>A, NM_001375942.1:c.740T>C, NM_001375934.1:c.716T>A, NM_001375934.1:c.716T>C, NM_001375939.1:c.716T>A, NM_001375939.1:c.716T>C, NM_001375949.1:c.716T>A, NM_001375949.1:c.716T>C, NM_001375933.1:c.716T>A, NM_001375933.1:c.716T>C, NM_001375940.1:c.740T>A, NM_001375940.1:c.740T>C, NM_001375943.1:c.740T>A, NM_001375943.1:c.740T>C, NM_001375932.1:c.716T>A, NM_001375932.1:c.716T>C, NM_001375938.1:c.716T>A, NM_001375938.1:c.716T>C, NM_001375948.1:c.716T>A, NM_001375948.1:c.716T>C, NM_001375935.1:c.716T>A, NM_001375935.1:c.716T>C, XM_047444696.1:c.578T>A, XM_047444696.1:c.578T>C, NM_001375953.1:c.602T>A, NM_001375953.1:c.602T>C, NM_001375937.1:c.716T>A, NM_001375937.1:c.716T>C, XM_047444715.1:c.578T>A, XM_047444715.1:c.578T>C, XM_047444695.1:c.578T>A, XM_047444695.1:c.578T>C, XM_047444693.1:c.632T>A, XM_047444693.1:c.632T>C, NM_001375952.1:c.644T>A, NM_001375952.1:c.644T>C, XM_047444694.1:c.632T>A, XM_047444694.1:c.632T>C, XM_047444692.1:c.716T>A, XM_047444692.1:c.716T>C, XM_047444697.1:c.578T>A, XM_047444697.1:c.578T>C, XM_047444691.1:c.716T>A, XM_047444691.1:c.716T>C, XP_006712646.1:p.Ile239Asn, XP_006712646.1:p.Ile239Thr, XP_006712647.1:p.Ile239Asn, XP_006712647.1:p.Ile239Thr, XP_006712643.1:p.Ile239Asn, XP_006712643.1:p.Ile239Thr, XP_006712645.1:p.Ile239Asn, XP_006712645.1:p.Ile239Thr, XP_011509635.1:p.Ile193Asn, XP_011509635.1:p.Ile193Thr, XP_011509633.1:p.Ile226Asn, XP_011509633.1:p.Ile226Thr, XP_011509631.1:p.Ile239Asn, XP_011509631.1:p.Ile239Thr, NP_001362865.1:p.Ile239Asn, NP_001362865.1:p.Ile239Thr, NP_001362870.1:p.Ile247Asn, NP_001362870.1:p.Ile247Thr, NP_001362880.1:p.Ile219Asn, NP_001362880.1:p.Ile219Thr, NP_001362871.1:p.Ile247Asn, NP_001362871.1:p.Ile247Thr, NP_001362863.1:p.Ile239Asn, NP_001362863.1:p.Ile239Thr, NP_001362868.1:p.Ile239Asn, NP_001362868.1:p.Ile239Thr, NP_001362878.1:p.Ile239Asn, NP_001362878.1:p.Ile239Thr, NP_001362862.1:p.Ile239Asn, NP_001362862.1:p.Ile239Thr, NP_001362869.1:p.Ile247Asn, NP_001362869.1:p.Ile247Thr, NP_001362872.1:p.Ile247Asn, NP_001362872.1:p.Ile247Thr, NP_001362861.1:p.Ile239Asn, NP_001362861.1:p.Ile239Thr, NP_001362867.1:p.Ile239Asn, NP_001362867.1:p.Ile239Thr, NP_001362877.1:p.Ile239Asn, NP_001362877.1:p.Ile239Thr, NP_001362864.1:p.Ile239Asn, NP_001362864.1:p.Ile239Thr, XP_047300652.1:p.Ile193Asn, XP_047300652.1:p.Ile193Thr, NP_001362882.1:p.Ile201Asn, NP_001362882.1:p.Ile201Thr, NP_001362866.1:p.Ile239Asn, NP_001362866.1:p.Ile239Thr, XP_047300671.1:p.Ile193Asn, XP_047300671.1:p.Ile193Thr, XP_047300651.1:p.Ile193Asn, XP_047300651.1:p.Ile193Thr, XP_047300649.1:p.Ile211Asn, XP_047300649.1:p.Ile211Thr, NP_001362881.1:p.Ile215Asn, NP_001362881.1:p.Ile215Thr, XP_047300650.1:p.Ile211Asn, XP_047300650.1:p.Ile211Thr, XP_047300648.1:p.Ile239Asn, XP_047300648.1:p.Ile239Thr, XP_047300653.1:p.Ile193Asn, XP_047300653.1:p.Ile193Thr, XP_047300647.1:p.Ile239Asn, XP_047300647.1:p.Ile239Thr

Select item 14696636934.

rs1469663693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:188584349 (GRCh38)
2:189449076 (GRCh37)
Canonical SPDI:: NC_000002.12:188584348:C:A,NC_000002.12:188584348:C:G
Gene:: GULP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.188584349C>A, NC_000002.12:g.188584349C>G, NC_000002.11:g.189449076C>A, NC_000002.11:g.189449076C>G, XM_006712583.5:c.919C>A, XM_006712583.5:c.919C>G, XM_006712583.4:c.919C>A, XM_006712583.4:c.919C>G, XM_006712583.3:c.919C>A, XM_006712583.3:c.919C>G, XM_006712583.2:c.919C>A, XM_006712583.2:c.919C>G, XM_006712583.1:c.919C>A, XM_006712583.1:c.919C>G, XM_006712584.5:c.919C>A, XM_006712584.5:c.919C>G, XM_006712584.4:c.919C>A, XM_006712584.4:c.919C>G, XM_006712584.3:c.919C>A, XM_006712584.3:c.919C>G, XM_006712584.2:c.919C>A, XM_006712584.2:c.919C>G, XM_006712584.1:c.919C>A, XM_006712584.1:c.919C>G, XM_006712580.5:c.919C>A, XM_006712580.5:c.919C>G, XM_006712580.4:c.919C>A, XM_006712580.4:c.919C>G, XM_006712580.3:c.919C>A, XM_006712580.3:c.919C>G, XM_006712580.2:c.919C>A, XM_006712580.2:c.919C>G, XM_006712580.1:c.919C>A, XM_006712580.1:c.919C>G, NM_016315.4:c.694C>A, NM_016315.4:c.694C>G, NM_016315.3:c.694C>A, NM_016315.3:c.694C>G, XM_006712589.4:c.694C>A, XM_006712589.4:c.694C>G, XM_006712589.3:c.694C>A, XM_006712589.3:c.694C>G, XM_006712589.2:c.694C>A, XM_006712589.2:c.694C>G, XM_006712589.1:c.694C>A, XM_006712589.1:c.694C>G, XM_011511335.3:c.556C>A, XM_011511335.3:c.556C>G, XM_011511335.2:c.556C>A, XM_011511335.2:c.556C>G, XM_011511335.1:c.556C>A, XM_011511335.1:c.556C>G, XM_006712582.2:c.919C>A, XM_006712582.2:c.919C>G, XM_006712582.1:c.919C>A, XM_006712582.1:c.919C>G, NR_045563.2:n.1412C>A, NR_045563.2:n.1412C>G, XM_011511333.2:c.781C>A, XM_011511333.2:c.781C>G, XM_011511333.1:c.781C>A, XM_011511333.1:c.781C>G, NM_001252668.2:c.694C>A, NM_001252668.2:c.694C>G, NM_001252668.1:c.694C>A, NM_001252668.1:c.694C>G, NR_045562.2:n.1150C>A, NR_045562.2:n.1150C>G, XM_011511331.2:c.880C>A, XM_011511331.2:c.880C>G, XM_011511331.1:c.880C>A, XM_011511331.1:c.880C>G, NM_001252669.2:c.385C>A, NM_001252669.2:c.385C>G, NM_001252669.1:c.385C>A, NM_001252669.1:c.385C>G, XM_011511329.2:c.919C>A, XM_011511329.2:c.919C>G, XM_011511329.1:c.919C>A, XM_011511329.1:c.919C>G, XM_017004307.2:c.556C>A, XM_017004307.2:c.556C>G, XM_017004307.1:c.556C>A, XM_017004307.1:c.556C>G, NM_001375936.1:c.919C>A, NM_001375936.1:c.919C>G, NM_001375929.1:c.694C>A, NM_001375929.1:c.694C>G, NR_045563.1:n.1577C>A, NR_045563.1:n.1577C>G, NM_001375941.1:c.943C>A, NM_001375941.1:c.943C>G, NM_001375951.1:c.859C>A, NM_001375951.1:c.859C>G, NM_001375942.1:c.943C>A, NM_001375942.1:c.943C>G, NM_001375934.1:c.919C>A, NM_001375934.1:c.919C>G, NM_001375939.1:c.919C>A, NM_001375939.1:c.919C>G, NM_001375949.1:c.919C>A, NM_001375949.1:c.919C>G, NM_001375933.1:c.919C>A, NM_001375933.1:c.919C>G, NM_001375940.1:c.943C>A, NM_001375940.1:c.943C>G, NM_001375926.1:c.694C>A, NM_001375926.1:c.694C>G, NM_001375943.1:c.943C>A, NM_001375943.1:c.943C>G, NM_001375932.1:c.919C>A, NM_001375932.1:c.919C>G, NM_001375938.1:c.919C>A, NM_001375938.1:c.919C>G, NM_001375948.1:c.919C>A, NM_001375948.1:c.919C>G, XM_047444702.1:c.694C>A, XM_047444702.1:c.694C>G, NM_001375935.1:c.919C>A, NM_001375935.1:c.919C>G, NR_045562.1:n.1315C>A, NR_045562.1:n.1315C>G, XM_047444696.1:c.781C>A, XM_047444696.1:c.781C>G, NM_001375953.1:c.805C>A, NM_001375953.1:c.805C>G, NM_001375937.1:c.919C>A, NM_001375937.1:c.919C>G, NR_164744.1:n.1255C>A, NR_164744.1:n.1255C>G, XM_047444715.1:c.781C>A, XM_047444715.1:c.781C>G, NM_001375927.1:c.694C>A, NM_001375927.1:c.694C>G, XM_047444695.1:c.781C>A, XM_047444695.1:c.781C>G, XM_047444693.1:c.835C>A, XM_047444693.1:c.835C>G, NM_001375931.1:c.694C>A, NM_001375931.1:c.694C>G, NM_001375930.1:c.694C>A, NM_001375930.1:c.694C>G, XM_047444710.1:c.556C>A, XM_047444710.1:c.556C>G, NM_001375952.1:c.847C>A, NM_001375952.1:c.847C>G, NM_001375925.1:c.694C>A, NM_001375925.1:c.694C>G, NR_164745.1:n.1146C>A, NR_164745.1:n.1146C>G, NM_001375928.1:c.694C>A, NM_001375928.1:c.694C>G, XM_047444709.1:c.556C>A, XM_047444709.1:c.556C>G, XM_047444694.1:c.835C>A, XM_047444694.1:c.835C>G, NM_001375945.1:c.556C>A, NM_001375945.1:c.556C>G, NM_001375944.1:c.556C>A, NM_001375944.1:c.556C>G, NM_001375950.1:c.556C>A, NM_001375950.1:c.556C>G, NM_001375946.1:c.556C>A, NM_001375946.1:c.556C>G, NM_001375947.1:c.556C>A, NM_001375947.1:c.556C>G, XM_047444711.1:c.556C>A, XM_047444711.1:c.556C>G, XM_047444692.1:c.919C>A, XM_047444692.1:c.919C>G, XM_047444697.1:c.781C>A, XM_047444697.1:c.781C>G, XM_047444705.1:c.694C>A, XM_047444705.1:c.694C>G, XM_047444704.1:c.694C>A, XM_047444704.1:c.694C>G, XM_047444707.1:c.694C>A, XM_047444707.1:c.694C>G, XM_047444703.1:c.694C>A, XM_047444703.1:c.694C>G, XM_047444714.1:c.556C>A, XM_047444714.1:c.556C>G, XM_047444706.1:c.694C>A, XM_047444706.1:c.694C>G, XM_047444691.1:c.919C>A, XM_047444691.1:c.919C>G, XM_047444712.1:c.556C>A, XM_047444712.1:c.556C>G, XM_047444713.1:c.556C>A, XM_047444713.1:c.556C>G, XM_047444701.1:c.694C>A, XM_047444701.1:c.694C>G, XM_047444699.1:c.694C>A, XM_047444699.1:c.694C>G, XM_047444698.1:c.694C>A, XM_047444698.1:c.694C>G, XM_047444700.1:c.694C>A, XM_047444700.1:c.694C>G, XM_047444708.1:c.556C>A, XM_047444708.1:c.556C>G, XP_006712646.1:p.Pro307Thr, XP_006712646.1:p.Pro307Ala, XP_006712647.1:p.Pro307Thr, XP_006712647.1:p.Pro307Ala, XP_006712643.1:p.Pro307Thr, XP_006712643.1:p.Pro307Ala, NP_057399.1:p.Pro232Thr, NP_057399.1:p.Pro232Ala, XP_006712652.1:p.Pro232Thr, XP_006712652.1:p.Pro232Ala, XP_011509637.1:p.Pro186Thr, XP_011509637.1:p.Pro186Ala, XP_006712645.1:p.Pro307Thr, XP_006712645.1:p.Pro307Ala, XP_011509635.1:p.Pro261Thr, XP_011509635.1:p.Pro261Ala, NP_001239597.1:p.Pro232Thr, NP_001239597.1:p.Pro232Ala, XP_011509633.1:p.Pro294Thr, XP_011509633.1:p.Pro294Ala, NP_001239598.1:p.Pro129Thr, NP_001239598.1:p.Pro129Ala, XP_011509631.1:p.Pro307Thr, XP_011509631.1:p.Pro307Ala, XP_016859796.1:p.Pro186Thr, XP_016859796.1:p.Pro186Ala, NP_001362865.1:p.Pro307Thr, NP_001362865.1:p.Pro307Ala, NP_001362858.1:p.Pro232Thr, NP_001362858.1:p.Pro232Ala, NP_001362870.1:p.Pro315Thr, NP_001362870.1:p.Pro315Ala, NP_001362880.1:p.Pro287Thr, NP_001362880.1:p.Pro287Ala, NP_001362871.1:p.Pro315Thr, NP_001362871.1:p.Pro315Ala, NP_001362863.1:p.Pro307Thr, NP_001362863.1:p.Pro307Ala, NP_001362868.1:p.Pro307Thr, NP_001362868.1:p.Pro307Ala, NP_001362878.1:p.Pro307Thr, NP_001362878.1:p.Pro307Ala, NP_001362862.1:p.Pro307Thr, NP_001362862.1:p.Pro307Ala, NP_001362869.1:p.Pro315Thr, NP_001362869.1:p.Pro315Ala, NP_001362855.1:p.Pro232Thr, NP_001362855.1:p.Pro232Ala, NP_001362872.1:p.Pro315Thr, NP_001362872.1:p.Pro315Ala, NP_001362861.1:p.Pro307Thr, NP_001362861.1:p.Pro307Ala, NP_001362867.1:p.Pro307Thr, NP_001362867.1:p.Pro307Ala, NP_001362877.1:p.Pro307Thr, NP_001362877.1:p.Pro307Ala, XP_047300658.1:p.Pro232Thr, XP_047300658.1:p.Pro232Ala, NP_001362864.1:p.Pro307Thr, NP_001362864.1:p.Pro307Ala, XP_047300652.1:p.Pro261Thr, XP_047300652.1:p.Pro261Ala, NP_001362882.1:p.Pro269Thr, NP_001362882.1:p.Pro269Ala, NP_001362866.1:p.Pro307Thr, NP_001362866.1:p.Pro307Ala, XP_047300671.1:p.Pro261Thr, XP_047300671.1:p.Pro261Ala, NP_001362856.1:p.Pro232Thr, NP_001362856.1:p.Pro232Ala, XP_047300651.1:p.Pro261Thr, XP_047300651.1:p.Pro261Ala, XP_047300649.1:p.Pro279Thr, XP_047300649.1:p.Pro279Ala, NP_001362860.1:p.Pro232Thr, NP_001362860.1:p.Pro232Ala, NP_001362859.1:p.Pro232Thr, NP_001362859.1:p.Pro232Ala, XP_047300666.1:p.Pro186Thr, XP_047300666.1:p.Pro186Ala, NP_001362881.1:p.Pro283Thr, NP_001362881.1:p.Pro283Ala, NP_001362854.1:p.Pro232Thr, NP_001362854.1:p.Pro232Ala, NP_001362857.1:p.Pro232Thr, NP_001362857.1:p.Pro232Ala, XP_047300665.1:p.Pro186Thr, XP_047300665.1:p.Pro186Ala, XP_047300650.1:p.Pro279Thr, XP_047300650.1:p.Pro279Ala, NP_001362874.1:p.Pro186Thr, NP_001362874.1:p.Pro186Ala, NP_001362873.1:p.Pro186Thr, NP_001362873.1:p.Pro186Ala, NP_001362879.1:p.Pro186Thr, NP_001362879.1:p.Pro186Ala, NP_001362875.1:p.Pro186Thr, NP_001362875.1:p.Pro186Ala, NP_001362876.1:p.Pro186Thr, NP_001362876.1:p.Pro186Ala, XP_047300667.1:p.Pro186Thr, XP_047300667.1:p.Pro186Ala, XP_047300648.1:p.Pro307Thr, XP_047300648.1:p.Pro307Ala, XP_047300653.1:p.Pro261Thr, XP_047300653.1:p.Pro261Ala, XP_047300661.1:p.Pro232Thr, XP_047300661.1:p.Pro232Ala, XP_047300660.1:p.Pro232Thr, XP_047300660.1:p.Pro232Ala, XP_047300663.1:p.Pro232Thr, XP_047300663.1:p.Pro232Ala, XP_047300659.1:p.Pro232Thr, XP_047300659.1:p.Pro232Ala, XP_047300670.1:p.Pro186Thr, XP_047300670.1:p.Pro186Ala, XP_047300662.1:p.Pro232Thr, XP_047300662.1:p.Pro232Ala, XP_047300647.1:p.Pro307Thr, XP_047300647.1:p.Pro307Ala, XP_047300668.1:p.Pro186Thr, XP_047300668.1:p.Pro186Ala, XP_047300669.1:p.Pro186Thr, XP_047300669.1:p.Pro186Ala, XP_047300657.1:p.Pro232Thr, XP_047300657.1:p.Pro232Ala, XP_047300655.1:p.Pro232Thr, XP_047300655.1:p.Pro232Ala, XP_047300654.1:p.Pro232Thr, XP_047300654.1:p.Pro232Ala, XP_047300656.1:p.Pro232Thr, XP_047300656.1:p.Pro232Ala, XP_047300664.1:p.Pro186Thr, XP_047300664.1:p.Pro186Ala

Select item 14688664725.

rs1468866472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188529154 (GRCh38)
2:189393881 (GRCh37)
Canonical SPDI:: NC_000002.12:188529153:A:G
Gene:: GULP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.188529154A>G, NC_000002.11:g.189393881A>G, XM_006712583.5:c.220A>G, XM_006712583.4:c.220A>G, XM_006712583.3:c.220A>G, XM_006712583.2:c.220A>G, XM_006712583.1:c.220A>G, XM_006712584.5:c.220A>G, XM_006712584.4:c.220A>G, XM_006712584.3:c.220A>G, XM_006712584.2:c.220A>G, XM_006712584.1:c.220A>G, XM_006712580.5:c.220A>G, XM_006712580.4:c.220A>G, XM_006712580.3:c.220A>G, XM_006712580.2:c.220A>G, XM_006712580.1:c.220A>G, NM_016315.4:c.220A>G, NM_016315.3:c.220A>G, XM_006712589.4:c.220A>G, XM_006712589.3:c.220A>G, XM_006712589.2:c.220A>G, XM_006712589.1:c.220A>G, XM_011511335.3:c.220A>G, XM_011511335.2:c.220A>G, XM_011511335.1:c.220A>G, XM_006712582.2:c.220A>G, XM_006712582.1:c.220A>G, NR_045563.2:n.938A>G, XM_011511333.2:c.220A>G, XM_011511333.1:c.220A>G, NM_001252668.2:c.220A>G, NM_001252668.1:c.220A>G, NR_045562.2:n.676A>G, XM_011511331.2:c.181A>G, XM_011511331.1:c.181A>G, XM_011511329.2:c.220A>G, XM_011511329.1:c.220A>G, XM_017004307.2:c.220A>G, XM_017004307.1:c.220A>G, NM_001375936.1:c.220A>G, NM_001375929.1:c.220A>G, NR_045563.1:n.1103A>G, NM_001375941.1:c.220A>G, NM_001375951.1:c.136A>G, NM_001375942.1:c.220A>G, NM_001375934.1:c.220A>G, NM_001375939.1:c.220A>G, NM_001375949.1:c.220A>G, NM_001375933.1:c.220A>G, NM_001375940.1:c.220A>G, NM_001375926.1:c.220A>G, NM_001375943.1:c.220A>G, NM_001375932.1:c.220A>G, NM_001375938.1:c.220A>G, NM_001375948.1:c.220A>G, XM_047444702.1:c.220A>G, NM_001375935.1:c.220A>G, NR_045562.1:n.841A>G, XM_047444696.1:c.220A>G, NM_001375953.1:c.220A>G, NM_001375937.1:c.220A>G, NR_164744.1:n.684A>G, XM_047444715.1:c.220A>G, NM_001375927.1:c.220A>G, XM_047444695.1:c.220A>G, XM_047444693.1:c.136A>G, NM_001375931.1:c.220A>G, NM_001375930.1:c.220A>G, XM_047444710.1:c.220A>G, NM_001375952.1:c.148A>G, NM_001375925.1:c.220A>G, NR_164745.1:n.676A>G, NM_001375928.1:c.220A>G, XM_047444709.1:c.220A>G, XM_047444694.1:c.136A>G, NM_001375945.1:c.220A>G, NM_001375944.1:c.220A>G, NM_001375950.1:c.220A>G, NM_001375946.1:c.220A>G, NM_001375947.1:c.220A>G, XM_047444711.1:c.220A>G, XM_047444692.1:c.220A>G, XM_047444697.1:c.220A>G, XM_047444705.1:c.220A>G, XM_047444704.1:c.220A>G, XM_047444707.1:c.220A>G, XM_047444703.1:c.220A>G, XM_047444714.1:c.220A>G, XM_047444706.1:c.220A>G, XM_047444691.1:c.220A>G, XM_047444712.1:c.220A>G, XM_047444713.1:c.220A>G, XM_047444701.1:c.220A>G, XM_047444699.1:c.220A>G, XM_047444698.1:c.220A>G, XM_047444700.1:c.220A>G, XM_047444708.1:c.220A>G, XP_006712646.1:p.Ile74Val, XP_006712647.1:p.Ile74Val, XP_006712643.1:p.Ile74Val, NP_057399.1:p.Ile74Val, XP_006712652.1:p.Ile74Val, XP_011509637.1:p.Ile74Val, XP_006712645.1:p.Ile74Val, XP_011509635.1:p.Ile74Val, NP_001239597.1:p.Ile74Val, XP_011509633.1:p.Ile61Val, XP_011509631.1:p.Ile74Val, XP_016859796.1:p.Ile74Val, NP_001362865.1:p.Ile74Val, NP_001362858.1:p.Ile74Val, NP_001362870.1:p.Ile74Val, NP_001362880.1:p.Ile46Val, NP_001362871.1:p.Ile74Val, NP_001362863.1:p.Ile74Val, NP_001362868.1:p.Ile74Val, NP_001362878.1:p.Ile74Val, NP_001362862.1:p.Ile74Val, NP_001362869.1:p.Ile74Val, NP_001362855.1:p.Ile74Val, NP_001362872.1:p.Ile74Val, NP_001362861.1:p.Ile74Val, NP_001362867.1:p.Ile74Val, NP_001362877.1:p.Ile74Val, XP_047300658.1:p.Ile74Val, NP_001362864.1:p.Ile74Val, XP_047300652.1:p.Ile74Val, NP_001362882.1:p.Ile74Val, NP_001362866.1:p.Ile74Val, XP_047300671.1:p.Ile74Val, NP_001362856.1:p.Ile74Val, XP_047300651.1:p.Ile74Val, XP_047300649.1:p.Ile46Val, NP_001362860.1:p.Ile74Val, NP_001362859.1:p.Ile74Val, XP_047300666.1:p.Ile74Val, NP_001362881.1:p.Ile50Val, NP_001362854.1:p.Ile74Val, NP_001362857.1:p.Ile74Val, XP_047300665.1:p.Ile74Val, XP_047300650.1:p.Ile46Val, NP_001362874.1:p.Ile74Val, NP_001362873.1:p.Ile74Val, NP_001362879.1:p.Ile74Val, NP_001362875.1:p.Ile74Val, NP_001362876.1:p.Ile74Val, XP_047300667.1:p.Ile74Val, XP_047300648.1:p.Ile74Val, XP_047300653.1:p.Ile74Val, XP_047300661.1:p.Ile74Val, XP_047300660.1:p.Ile74Val, XP_047300663.1:p.Ile74Val, XP_047300659.1:p.Ile74Val, XP_047300670.1:p.Ile74Val, XP_047300662.1:p.Ile74Val, XP_047300647.1:p.Ile74Val, XP_047300668.1:p.Ile74Val, XP_047300669.1:p.Ile74Val, XP_047300657.1:p.Ile74Val, XP_047300655.1:p.Ile74Val, XP_047300654.1:p.Ile74Val, XP_047300656.1:p.Ile74Val, XP_047300664.1:p.Ile74Val

Select item 14576600476.

rs1457660047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188587897 (GRCh38)
2:189452624 (GRCh37)
Canonical SPDI:: NC_000002.12:188587896:G:A
Gene:: GULP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.188587897G>A, NC_000002.11:g.189452624G>A, XM_006712583.5:c.1016G>A, XM_006712583.4:c.1016G>A, XM_006712583.3:c.1016G>A, XM_006712583.2:c.1016G>A, XM_006712583.1:c.1016G>A, XM_006712584.5:c.1016G>A, XM_006712584.4:c.1016G>A, XM_006712584.3:c.1016G>A, XM_006712584.2:c.1016G>A, XM_006712584.1:c.1016G>A, XM_006712580.5:c.1016G>A, XM_006712580.4:c.1016G>A, XM_006712580.3:c.1016G>A, XM_006712580.2:c.1016G>A, XM_006712580.1:c.1016G>A, NM_016315.4:c.791G>A, NM_016315.3:c.791G>A, XM_006712589.4:c.791G>A, XM_006712589.3:c.791G>A, XM_006712589.2:c.791G>A, XM_006712589.1:c.791G>A, XM_011511335.3:c.653G>A, XM_011511335.2:c.653G>A, XM_011511335.1:c.653G>A, XM_006712582.2:c.1016G>A, XM_006712582.1:c.1016G>A, NR_045563.2:n.1509G>A, XM_011511333.2:c.878G>A, XM_011511333.1:c.878G>A, NM_001252668.2:c.791G>A, NM_001252668.1:c.791G>A, NR_045562.2:n.1247G>A, XM_011511331.2:c.977G>A, XM_011511331.1:c.977G>A, NM_001252669.2:c.482G>A, NM_001252669.1:c.482G>A, XM_011511329.2:c.1016G>A, XM_011511329.1:c.1016G>A, XM_017004307.2:c.653G>A, XM_017004307.1:c.653G>A, NM_001375936.1:c.1016G>A, NM_001375929.1:c.791G>A, NR_045563.1:n.1674G>A, NM_001375941.1:c.1040G>A, NM_001375951.1:c.956G>A, NM_001375942.1:c.1040G>A, NM_001375934.1:c.1016G>A, NM_001375939.1:c.1016G>A, NM_001375949.1:c.1016G>A, NM_001375933.1:c.1016G>A, NM_001375940.1:c.1040G>A, NM_001375926.1:c.791G>A, NM_001375943.1:c.1040G>A, NM_001375932.1:c.1016G>A, NM_001375938.1:c.1016G>A, NM_001375948.1:c.1016G>A, XM_047444702.1:c.791G>A, NM_001375935.1:c.1016G>A, NR_045562.1:n.1412G>A, XM_047444696.1:c.878G>A, NM_001375953.1:c.902G>A, NM_001375937.1:c.1016G>A, NR_164744.1:n.1352G>A, XM_047444715.1:c.878G>A, NM_001375927.1:c.791G>A, XM_047444695.1:c.878G>A, XM_047444693.1:c.932G>A, NM_001375931.1:c.791G>A, NM_001375930.1:c.791G>A, XM_047444710.1:c.653G>A, NM_001375952.1:c.944G>A, NM_001375925.1:c.791G>A, NR_164745.1:n.1243G>A, NM_001375928.1:c.791G>A, XM_047444709.1:c.653G>A, XM_047444694.1:c.932G>A, NM_001375945.1:c.653G>A, NM_001375944.1:c.653G>A, NM_001375950.1:c.653G>A, NM_001375946.1:c.653G>A, NM_001375947.1:c.653G>A, XM_047444711.1:c.653G>A, XM_047444692.1:c.1016G>A, XM_047444697.1:c.878G>A, XM_047444705.1:c.791G>A, XM_047444704.1:c.791G>A, XM_047444707.1:c.791G>A, XM_047444703.1:c.791G>A, XM_047444714.1:c.653G>A, XM_047444706.1:c.791G>A, XM_047444691.1:c.1016G>A, XM_047444712.1:c.653G>A, XM_047444713.1:c.653G>A, XM_047444701.1:c.791G>A, XM_047444699.1:c.791G>A, XM_047444698.1:c.791G>A, XM_047444700.1:c.791G>A, XM_047444708.1:c.653G>A, XP_006712646.1:p.Cys339Tyr, XP_006712647.1:p.Cys339Tyr, XP_006712643.1:p.Cys339Tyr, NP_057399.1:p.Cys264Tyr, XP_006712652.1:p.Cys264Tyr, XP_011509637.1:p.Cys218Tyr, XP_006712645.1:p.Cys339Tyr, XP_011509635.1:p.Cys293Tyr, NP_001239597.1:p.Cys264Tyr, XP_011509633.1:p.Cys326Tyr, NP_001239598.1:p.Cys161Tyr, XP_011509631.1:p.Cys339Tyr, XP_016859796.1:p.Cys218Tyr, NP_001362865.1:p.Cys339Tyr, NP_001362858.1:p.Cys264Tyr, NP_001362870.1:p.Cys347Tyr, NP_001362880.1:p.Cys319Tyr, NP_001362871.1:p.Cys347Tyr, NP_001362863.1:p.Cys339Tyr, NP_001362868.1:p.Cys339Tyr, NP_001362878.1:p.Cys339Tyr, NP_001362862.1:p.Cys339Tyr, NP_001362869.1:p.Cys347Tyr, NP_001362855.1:p.Cys264Tyr, NP_001362872.1:p.Cys347Tyr, NP_001362861.1:p.Cys339Tyr, NP_001362867.1:p.Cys339Tyr, NP_001362877.1:p.Cys339Tyr, XP_047300658.1:p.Cys264Tyr, NP_001362864.1:p.Cys339Tyr, XP_047300652.1:p.Cys293Tyr, NP_001362882.1:p.Cys301Tyr, NP_001362866.1:p.Cys339Tyr, XP_047300671.1:p.Cys293Tyr, NP_001362856.1:p.Cys264Tyr, XP_047300651.1:p.Cys293Tyr, XP_047300649.1:p.Cys311Tyr, NP_001362860.1:p.Cys264Tyr, NP_001362859.1:p.Cys264Tyr, XP_047300666.1:p.Cys218Tyr, NP_001362881.1:p.Cys315Tyr, NP_001362854.1:p.Cys264Tyr, NP_001362857.1:p.Cys264Tyr, XP_047300665.1:p.Cys218Tyr, XP_047300650.1:p.Cys311Tyr, NP_001362874.1:p.Cys218Tyr, NP_001362873.1:p.Cys218Tyr, NP_001362879.1:p.Cys218Tyr, NP_001362875.1:p.Cys218Tyr, NP_001362876.1:p.Cys218Tyr, XP_047300667.1:p.Cys218Tyr, XP_047300648.1:p.Cys339Tyr, XP_047300653.1:p.Cys293Tyr, XP_047300661.1:p.Cys264Tyr, XP_047300660.1:p.Cys264Tyr, XP_047300663.1:p.Cys264Tyr, XP_047300659.1:p.Cys264Tyr, XP_047300670.1:p.Cys218Tyr, XP_047300662.1:p.Cys264Tyr, XP_047300647.1:p.Cys339Tyr, XP_047300668.1:p.Cys218Tyr, XP_047300669.1:p.Cys218Tyr, XP_047300657.1:p.Cys264Tyr, XP_047300655.1:p.Cys264Tyr, XP_047300654.1:p.Cys264Tyr, XP_047300656.1:p.Cys264Tyr, XP_047300664.1:p.Cys218Tyr

Select item 14549217547.

rs1454921754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:188569337 (GRCh38)
2:189434064 (GRCh37)
Canonical SPDI:: NC_000002.12:188569336:C:T
Gene:: GULP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.188569337C>T, NC_000002.11:g.189434064C>T, XM_006712583.5:c.498C>T, XM_006712583.4:c.498C>T, XM_006712583.3:c.498C>T, XM_006712583.2:c.498C>T, XM_006712583.1:c.498C>T, XM_006712584.5:c.498C>T, XM_006712584.4:c.498C>T, XM_006712584.3:c.498C>T, XM_006712584.2:c.498C>T, XM_006712584.1:c.498C>T, XM_006712580.5:c.498C>T, XM_006712580.4:c.498C>T, XM_006712580.3:c.498C>T, XM_006712580.2:c.498C>T, XM_006712580.1:c.498C>T, NM_016315.4:c.498C>T, NM_016315.3:c.498C>T, XM_006712589.4:c.498C>T, XM_006712589.3:c.498C>T, XM_006712589.2:c.498C>T, XM_006712589.1:c.498C>T, XM_011511335.3:c.360C>T, XM_011511335.2:c.360C>T, XM_011511335.1:c.360C>T, XM_006712582.2:c.498C>T, XM_006712582.1:c.498C>T, NR_045563.2:n.1216C>T, XM_011511333.2:c.360C>T, XM_011511333.1:c.360C>T, NM_001252668.2:c.498C>T, NM_001252668.1:c.498C>T, NR_045562.2:n.954C>T, XM_011511331.2:c.459C>T, XM_011511331.1:c.459C>T, NM_001252669.2:c.189C>T, NM_001252669.1:c.189C>T, XM_011511329.2:c.498C>T, XM_011511329.1:c.498C>T, XM_017004307.2:c.360C>T, XM_017004307.1:c.360C>T, NM_001375936.1:c.498C>T, NM_001375929.1:c.498C>T, NR_045563.1:n.1381C>T, NM_001375941.1:c.498C>T, NM_001375951.1:c.414C>T, NM_001375942.1:c.498C>T, NM_001375934.1:c.498C>T, NM_001375939.1:c.498C>T, NM_001375949.1:c.498C>T, NM_001375933.1:c.498C>T, NM_001375940.1:c.498C>T, NM_001375926.1:c.498C>T, NM_001375943.1:c.498C>T, NM_001375932.1:c.498C>T, NM_001375938.1:c.498C>T, NM_001375948.1:c.498C>T, XM_047444702.1:c.498C>T, NM_001375935.1:c.498C>T, NR_045562.1:n.1119C>T, XM_047444696.1:c.360C>T, NM_001375953.1:c.360C>T, NM_001375937.1:c.498C>T, NR_164744.1:n.962C>T, XM_047444715.1:c.360C>T, NM_001375927.1:c.498C>T, XM_047444695.1:c.360C>T, XM_047444693.1:c.414C>T, NM_001375931.1:c.498C>T, NM_001375930.1:c.498C>T, XM_047444710.1:c.360C>T, NM_001375952.1:c.426C>T, NM_001375925.1:c.498C>T, NR_164745.1:n.950C>T, NM_001375928.1:c.498C>T, XM_047444709.1:c.360C>T, XM_047444694.1:c.414C>T, NM_001375945.1:c.360C>T, NM_001375944.1:c.360C>T, NM_001375950.1:c.360C>T, NM_001375946.1:c.360C>T, NM_001375947.1:c.360C>T, XM_047444711.1:c.360C>T, XM_047444692.1:c.498C>T, XM_047444697.1:c.360C>T, XM_047444705.1:c.498C>T, XM_047444704.1:c.498C>T, XM_047444707.1:c.498C>T, XM_047444703.1:c.498C>T, XM_047444714.1:c.360C>T, XM_047444706.1:c.498C>T, XM_047444691.1:c.498C>T, XM_047444712.1:c.360C>T, XM_047444713.1:c.360C>T, XM_047444701.1:c.498C>T, XM_047444699.1:c.498C>T, XM_047444698.1:c.498C>T, XM_047444700.1:c.498C>T, XM_047444708.1:c.360C>T

Select item 14547727258.

rs1454772725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188582545 (GRCh38)
2:189447272 (GRCh37)
Canonical SPDI:: NC_000002.12:188582544:A:G
Gene:: GULP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.188582545A>G, NC_000002.11:g.189447272A>G, XM_006712583.5:c.814A>G, XM_006712583.4:c.814A>G, XM_006712583.3:c.814A>G, XM_006712583.2:c.814A>G, XM_006712583.1:c.814A>G, XM_006712584.5:c.814A>G, XM_006712584.4:c.814A>G, XM_006712584.3:c.814A>G, XM_006712584.2:c.814A>G, XM_006712584.1:c.814A>G, XM_006712580.5:c.814A>G, XM_006712580.4:c.814A>G, XM_006712580.3:c.814A>G, XM_006712580.2:c.814A>G, XM_006712580.1:c.814A>G, XM_006712582.2:c.814A>G, XM_006712582.1:c.814A>G, XM_011511333.2:c.676A>G, XM_011511333.1:c.676A>G, XM_011511331.2:c.775A>G, XM_011511331.1:c.775A>G, XM_011511329.2:c.814A>G, XM_011511329.1:c.814A>G, NM_001375936.1:c.814A>G, NM_001375941.1:c.838A>G, NM_001375951.1:c.754A>G, NM_001375942.1:c.838A>G, NM_001375934.1:c.814A>G, NM_001375939.1:c.814A>G, NM_001375949.1:c.814A>G, NM_001375933.1:c.814A>G, NM_001375940.1:c.838A>G, NM_001375943.1:c.838A>G, NM_001375932.1:c.814A>G, NM_001375938.1:c.814A>G, NM_001375948.1:c.814A>G, NM_001375935.1:c.814A>G, XM_047444696.1:c.676A>G, NM_001375953.1:c.700A>G, NM_001375937.1:c.814A>G, XM_047444715.1:c.676A>G, XM_047444695.1:c.676A>G, XM_047444693.1:c.730A>G, NM_001375952.1:c.742A>G, XM_047444694.1:c.730A>G, XM_047444692.1:c.814A>G, XM_047444697.1:c.676A>G, XM_047444691.1:c.814A>G, XP_006712646.1:p.Ser272Gly, XP_006712647.1:p.Ser272Gly, XP_006712643.1:p.Ser272Gly, XP_006712645.1:p.Ser272Gly, XP_011509635.1:p.Ser226Gly, XP_011509633.1:p.Ser259Gly, XP_011509631.1:p.Ser272Gly, NP_001362865.1:p.Ser272Gly, NP_001362870.1:p.Ser280Gly, NP_001362880.1:p.Ser252Gly, NP_001362871.1:p.Ser280Gly, NP_001362863.1:p.Ser272Gly, NP_001362868.1:p.Ser272Gly, NP_001362878.1:p.Ser272Gly, NP_001362862.1:p.Ser272Gly, NP_001362869.1:p.Ser280Gly, NP_001362872.1:p.Ser280Gly, NP_001362861.1:p.Ser272Gly, NP_001362867.1:p.Ser272Gly, NP_001362877.1:p.Ser272Gly, NP_001362864.1:p.Ser272Gly, XP_047300652.1:p.Ser226Gly, NP_001362882.1:p.Ser234Gly, NP_001362866.1:p.Ser272Gly, XP_047300671.1:p.Ser226Gly, XP_047300651.1:p.Ser226Gly, XP_047300649.1:p.Ser244Gly, NP_001362881.1:p.Ser248Gly, XP_047300650.1:p.Ser244Gly, XP_047300648.1:p.Ser272Gly, XP_047300653.1:p.Ser226Gly, XP_047300647.1:p.Ser272Gly

Select item 14496962669.

rs1449696266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188529114 (GRCh38)
2:189393841 (GRCh37)
Canonical SPDI:: NC_000002.12:188529113:G:A
Gene:: GULP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.188529114G>A, NC_000002.11:g.189393841G>A, XM_006712583.5:c.180G>A, XM_006712583.4:c.180G>A, XM_006712583.3:c.180G>A, XM_006712583.2:c.180G>A, XM_006712583.1:c.180G>A, XM_006712584.5:c.180G>A, XM_006712584.4:c.180G>A, XM_006712584.3:c.180G>A, XM_006712584.2:c.180G>A, XM_006712584.1:c.180G>A, XM_006712580.5:c.180G>A, XM_006712580.4:c.180G>A, XM_006712580.3:c.180G>A, XM_006712580.2:c.180G>A, XM_006712580.1:c.180G>A, NM_016315.4:c.180G>A, NM_016315.3:c.180G>A, XM_006712589.4:c.180G>A, XM_006712589.3:c.180G>A, XM_006712589.2:c.180G>A, XM_006712589.1:c.180G>A, XM_011511335.3:c.180G>A, XM_011511335.2:c.180G>A, XM_011511335.1:c.180G>A, XM_006712582.2:c.180G>A, XM_006712582.1:c.180G>A, NR_045563.2:n.898G>A, XM_011511333.2:c.180G>A, XM_011511333.1:c.180G>A, NM_001252668.2:c.180G>A, NM_001252668.1:c.180G>A, NR_045562.2:n.636G>A, XM_011511331.2:c.141G>A, XM_011511331.1:c.141G>A, XM_011511329.2:c.180G>A, XM_011511329.1:c.180G>A, XM_017004307.2:c.180G>A, XM_017004307.1:c.180G>A, NM_001375936.1:c.180G>A, NM_001375929.1:c.180G>A, NR_045563.1:n.1063G>A, NM_001375941.1:c.180G>A, NM_001375951.1:c.96G>A, NM_001375942.1:c.180G>A, NM_001375934.1:c.180G>A, NM_001375939.1:c.180G>A, NM_001375949.1:c.180G>A, NM_001375933.1:c.180G>A, NM_001375940.1:c.180G>A, NM_001375926.1:c.180G>A, NM_001375943.1:c.180G>A, NM_001375932.1:c.180G>A, NM_001375938.1:c.180G>A, NM_001375948.1:c.180G>A, XM_047444702.1:c.180G>A, NM_001375935.1:c.180G>A, NR_045562.1:n.801G>A, XM_047444696.1:c.180G>A, NM_001375953.1:c.180G>A, NM_001375937.1:c.180G>A, NR_164744.1:n.644G>A, XM_047444715.1:c.180G>A, NM_001375927.1:c.180G>A, XM_047444695.1:c.180G>A, XM_047444693.1:c.96G>A, NM_001375931.1:c.180G>A, NM_001375930.1:c.180G>A, XM_047444710.1:c.180G>A, NM_001375952.1:c.108G>A, NM_001375925.1:c.180G>A, NR_164745.1:n.636G>A, NM_001375928.1:c.180G>A, XM_047444709.1:c.180G>A, XM_047444694.1:c.96G>A, NM_001375945.1:c.180G>A, NM_001375944.1:c.180G>A, NM_001375950.1:c.180G>A, NM_001375946.1:c.180G>A, NM_001375947.1:c.180G>A, XM_047444711.1:c.180G>A, XM_047444692.1:c.180G>A, XM_047444697.1:c.180G>A, XM_047444705.1:c.180G>A, XM_047444704.1:c.180G>A, XM_047444707.1:c.180G>A, XM_047444703.1:c.180G>A, XM_047444714.1:c.180G>A, XM_047444706.1:c.180G>A, XM_047444691.1:c.180G>A, XM_047444712.1:c.180G>A, XM_047444713.1:c.180G>A, XM_047444701.1:c.180G>A, XM_047444699.1:c.180G>A, XM_047444698.1:c.180G>A, XM_047444700.1:c.180G>A, XM_047444708.1:c.180G>A

Select item 144228631010.

rs1442286310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:188582541 (GRCh38)
2:189447268 (GRCh37)
Canonical SPDI:: NC_000002.12:188582540:T:G
Gene:: GULP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
G=0.000779/13 (TOMMO)
HGVS:: NC_000002.12:g.188582541T>G, NC_000002.11:g.189447268T>G, XM_006712583.5:c.810T>G, XM_006712583.4:c.810T>G, XM_006712583.3:c.810T>G, XM_006712583.2:c.810T>G, XM_006712583.1:c.810T>G, XM_006712584.5:c.810T>G, XM_006712584.4:c.810T>G, XM_006712584.3:c.810T>G, XM_006712584.2:c.810T>G, XM_006712584.1:c.810T>G, XM_006712580.5:c.810T>G, XM_006712580.4:c.810T>G, XM_006712580.3:c.810T>G, XM_006712580.2:c.810T>G, XM_006712580.1:c.810T>G, XM_006712582.2:c.810T>G, XM_006712582.1:c.810T>G, XM_011511333.2:c.672T>G, XM_011511333.1:c.672T>G, XM_011511331.2:c.771T>G, XM_011511331.1:c.771T>G, XM_011511329.2:c.810T>G, XM_011511329.1:c.810T>G, NM_001375936.1:c.810T>G, NM_001375941.1:c.834T>G, NM_001375951.1:c.750T>G, NM_001375942.1:c.834T>G, NM_001375934.1:c.810T>G, NM_001375939.1:c.810T>G, NM_001375949.1:c.810T>G, NM_001375933.1:c.810T>G, NM_001375940.1:c.834T>G, NM_001375943.1:c.834T>G, NM_001375932.1:c.810T>G, NM_001375938.1:c.810T>G, NM_001375948.1:c.810T>G, NM_001375935.1:c.810T>G, XM_047444696.1:c.672T>G, NM_001375953.1:c.696T>G, NM_001375937.1:c.810T>G, XM_047444715.1:c.672T>G, XM_047444695.1:c.672T>G, XM_047444693.1:c.726T>G, NM_001375952.1:c.738T>G, XM_047444694.1:c.726T>G, XM_047444692.1:c.810T>G, XM_047444697.1:c.672T>G, XM_047444691.1:c.810T>G, XP_006712646.1:p.Ser270Arg, XP_006712647.1:p.Ser270Arg, XP_006712643.1:p.Ser270Arg, XP_006712645.1:p.Ser270Arg, XP_011509635.1:p.Ser224Arg, XP_011509633.1:p.Ser257Arg, XP_011509631.1:p.Ser270Arg, NP_001362865.1:p.Ser270Arg, NP_001362870.1:p.Ser278Arg, NP_001362880.1:p.Ser250Arg, NP_001362871.1:p.Ser278Arg, NP_001362863.1:p.Ser270Arg, NP_001362868.1:p.Ser270Arg, NP_001362878.1:p.Ser270Arg, NP_001362862.1:p.Ser270Arg, NP_001362869.1:p.Ser278Arg, NP_001362872.1:p.Ser278Arg, NP_001362861.1:p.Ser270Arg, NP_001362867.1:p.Ser270Arg, NP_001362877.1:p.Ser270Arg, NP_001362864.1:p.Ser270Arg, XP_047300652.1:p.Ser224Arg, NP_001362882.1:p.Ser232Arg, NP_001362866.1:p.Ser270Arg, XP_047300671.1:p.Ser224Arg, XP_047300651.1:p.Ser224Arg, XP_047300649.1:p.Ser242Arg, NP_001362881.1:p.Ser246Arg, XP_047300650.1:p.Ser242Arg, XP_047300648.1:p.Ser270Arg, XP_047300653.1:p.Ser224Arg, XP_047300647.1:p.Ser270Arg

Select item 144120948811.

rs1441209488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:188587917 (GRCh38)
2:189452644 (GRCh37)
Canonical SPDI:: NC_000002.12:188587916:C:T
Gene:: GULP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.188587917C>T, NC_000002.11:g.189452644C>T, XM_006712583.5:c.1036C>T, XM_006712583.4:c.1036C>T, XM_006712583.3:c.1036C>T, XM_006712583.2:c.1036C>T, XM_006712583.1:c.1036C>T, XM_006712584.5:c.1036C>T, XM_006712584.4:c.1036C>T, XM_006712584.3:c.1036C>T, XM_006712584.2:c.1036C>T, XM_006712584.1:c.1036C>T, XM_006712580.5:c.1036C>T, XM_006712580.4:c.1036C>T, XM_006712580.3:c.1036C>T, XM_006712580.2:c.1036C>T, XM_006712580.1:c.1036C>T, NM_016315.4:c.811C>T, NM_016315.3:c.811C>T, XM_006712589.4:c.811C>T, XM_006712589.3:c.811C>T, XM_006712589.2:c.811C>T, XM_006712589.1:c.811C>T, XM_011511335.3:c.673C>T, XM_011511335.2:c.673C>T, XM_011511335.1:c.673C>T, XM_006712582.2:c.1036C>T, XM_006712582.1:c.1036C>T, NR_045563.2:n.1529C>T, XM_011511333.2:c.898C>T, XM_011511333.1:c.898C>T, NM_001252668.2:c.811C>T, NM_001252668.1:c.811C>T, NR_045562.2:n.1267C>T, XM_011511331.2:c.997C>T, XM_011511331.1:c.997C>T, NM_001252669.2:c.502C>T, NM_001252669.1:c.502C>T, XM_011511329.2:c.1036C>T, XM_011511329.1:c.1036C>T, XM_017004307.2:c.673C>T, XM_017004307.1:c.673C>T, NM_001375936.1:c.1036C>T, NM_001375929.1:c.811C>T, NR_045563.1:n.1694C>T, NM_001375941.1:c.1060C>T, NM_001375951.1:c.976C>T, NM_001375942.1:c.1060C>T, NM_001375934.1:c.1036C>T, NM_001375939.1:c.1036C>T, NM_001375949.1:c.1036C>T, NM_001375933.1:c.1036C>T, NM_001375940.1:c.1060C>T, NM_001375926.1:c.811C>T, NM_001375943.1:c.1060C>T, NM_001375932.1:c.1036C>T, NM_001375938.1:c.1036C>T, NM_001375948.1:c.1036C>T, XM_047444702.1:c.811C>T, NM_001375935.1:c.1036C>T, NR_045562.1:n.1432C>T, XM_047444696.1:c.898C>T, NM_001375953.1:c.922C>T, NM_001375937.1:c.1036C>T, NR_164744.1:n.1372C>T, XM_047444715.1:c.898C>T, NM_001375927.1:c.811C>T, XM_047444695.1:c.898C>T, XM_047444693.1:c.952C>T, NM_001375931.1:c.811C>T, NM_001375930.1:c.811C>T, XM_047444710.1:c.673C>T, NM_001375952.1:c.964C>T, NM_001375925.1:c.811C>T, NR_164745.1:n.1263C>T, NM_001375928.1:c.811C>T, XM_047444709.1:c.673C>T, XM_047444694.1:c.952C>T, NM_001375945.1:c.673C>T, NM_001375944.1:c.673C>T, NM_001375950.1:c.673C>T, NM_001375946.1:c.673C>T, NM_001375947.1:c.673C>T, XM_047444711.1:c.673C>T, XM_047444692.1:c.1036C>T, XM_047444697.1:c.898C>T, XM_047444705.1:c.811C>T, XM_047444704.1:c.811C>T, XM_047444707.1:c.811C>T, XM_047444703.1:c.811C>T, XM_047444714.1:c.673C>T, XM_047444706.1:c.811C>T, XM_047444691.1:c.1036C>T, XM_047444712.1:c.673C>T, XM_047444713.1:c.673C>T, XM_047444701.1:c.811C>T, XM_047444699.1:c.811C>T, XM_047444698.1:c.811C>T, XM_047444700.1:c.811C>T, XM_047444708.1:c.673C>T, XP_006712646.1:p.Pro346Ser, XP_006712647.1:p.Pro346Ser, XP_006712643.1:p.Pro346Ser, NP_057399.1:p.Pro271Ser, XP_006712652.1:p.Pro271Ser, XP_011509637.1:p.Pro225Ser, XP_006712645.1:p.Pro346Ser, XP_011509635.1:p.Pro300Ser, NP_001239597.1:p.Pro271Ser, XP_011509633.1:p.Pro333Ser, NP_001239598.1:p.Pro168Ser, XP_011509631.1:p.Pro346Ser, XP_016859796.1:p.Pro225Ser, NP_001362865.1:p.Pro346Ser, NP_001362858.1:p.Pro271Ser, NP_001362870.1:p.Pro354Ser, NP_001362880.1:p.Pro326Ser, NP_001362871.1:p.Pro354Ser, NP_001362863.1:p.Pro346Ser, NP_001362868.1:p.Pro346Ser, NP_001362878.1:p.Pro346Ser, NP_001362862.1:p.Pro346Ser, NP_001362869.1:p.Pro354Ser, NP_001362855.1:p.Pro271Ser, NP_001362872.1:p.Pro354Ser, NP_001362861.1:p.Pro346Ser, NP_001362867.1:p.Pro346Ser, NP_001362877.1:p.Pro346Ser, XP_047300658.1:p.Pro271Ser, NP_001362864.1:p.Pro346Ser, XP_047300652.1:p.Pro300Ser, NP_001362882.1:p.Pro308Ser, NP_001362866.1:p.Pro346Ser, XP_047300671.1:p.Pro300Ser, NP_001362856.1:p.Pro271Ser, XP_047300651.1:p.Pro300Ser, XP_047300649.1:p.Pro318Ser, NP_001362860.1:p.Pro271Ser, NP_001362859.1:p.Pro271Ser, XP_047300666.1:p.Pro225Ser, NP_001362881.1:p.Pro322Ser, NP_001362854.1:p.Pro271Ser, NP_001362857.1:p.Pro271Ser, XP_047300665.1:p.Pro225Ser, XP_047300650.1:p.Pro318Ser, NP_001362874.1:p.Pro225Ser, NP_001362873.1:p.Pro225Ser, NP_001362879.1:p.Pro225Ser, NP_001362875.1:p.Pro225Ser, NP_001362876.1:p.Pro225Ser, XP_047300667.1:p.Pro225Ser, XP_047300648.1:p.Pro346Ser, XP_047300653.1:p.Pro300Ser, XP_047300661.1:p.Pro271Ser, XP_047300660.1:p.Pro271Ser, XP_047300663.1:p.Pro271Ser, XP_047300659.1:p.Pro271Ser, XP_047300670.1:p.Pro225Ser, XP_047300662.1:p.Pro271Ser, XP_047300647.1:p.Pro346Ser, XP_047300668.1:p.Pro225Ser, XP_047300669.1:p.Pro225Ser, XP_047300657.1:p.Pro271Ser, XP_047300655.1:p.Pro271Ser, XP_047300654.1:p.Pro271Ser, XP_047300656.1:p.Pro271Ser, XP_047300664.1:p.Pro225Ser

Select item 143811347212.

rs1438113472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:188582482 (GRCh38)
2:189447209 (GRCh37)
Canonical SPDI:: NC_000002.12:188582481:C:G
Gene:: GULP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.188582482C>G, NC_000002.11:g.189447209C>G, XM_006712583.5:c.751C>G, XM_006712583.4:c.751C>G, XM_006712583.3:c.751C>G, XM_006712583.2:c.751C>G, XM_006712583.1:c.751C>G, XM_006712584.5:c.751C>G, XM_006712584.4:c.751C>G, XM_006712584.3:c.751C>G, XM_006712584.2:c.751C>G, XM_006712584.1:c.751C>G, XM_006712580.5:c.751C>G, XM_006712580.4:c.751C>G, XM_006712580.3:c.751C>G, XM_006712580.2:c.751C>G, XM_006712580.1:c.751C>G, XM_006712582.2:c.751C>G, XM_006712582.1:c.751C>G, XM_011511333.2:c.613C>G, XM_011511333.1:c.613C>G, XM_011511331.2:c.712C>G, XM_011511331.1:c.712C>G, XM_011511329.2:c.751C>G, XM_011511329.1:c.751C>G, NM_001375936.1:c.751C>G, NM_001375941.1:c.775C>G, NM_001375951.1:c.691C>G, NM_001375942.1:c.775C>G, NM_001375934.1:c.751C>G, NM_001375939.1:c.751C>G, NM_001375949.1:c.751C>G, NM_001375933.1:c.751C>G, NM_001375940.1:c.775C>G, NM_001375943.1:c.775C>G, NM_001375932.1:c.751C>G, NM_001375938.1:c.751C>G, NM_001375948.1:c.751C>G, NM_001375935.1:c.751C>G, XM_047444696.1:c.613C>G, NM_001375953.1:c.637C>G, NM_001375937.1:c.751C>G, XM_047444715.1:c.613C>G, XM_047444695.1:c.613C>G, XM_047444693.1:c.667C>G, NM_001375952.1:c.679C>G, XM_047444694.1:c.667C>G, XM_047444692.1:c.751C>G, XM_047444697.1:c.613C>G, XM_047444691.1:c.751C>G, XP_006712646.1:p.Leu251Val, XP_006712647.1:p.Leu251Val, XP_006712643.1:p.Leu251Val, XP_006712645.1:p.Leu251Val, XP_011509635.1:p.Leu205Val, XP_011509633.1:p.Leu238Val, XP_011509631.1:p.Leu251Val, NP_001362865.1:p.Leu251Val, NP_001362870.1:p.Leu259Val, NP_001362880.1:p.Leu231Val, NP_001362871.1:p.Leu259Val, NP_001362863.1:p.Leu251Val, NP_001362868.1:p.Leu251Val, NP_001362878.1:p.Leu251Val, NP_001362862.1:p.Leu251Val, NP_001362869.1:p.Leu259Val, NP_001362872.1:p.Leu259Val, NP_001362861.1:p.Leu251Val, NP_001362867.1:p.Leu251Val, NP_001362877.1:p.Leu251Val, NP_001362864.1:p.Leu251Val, XP_047300652.1:p.Leu205Val, NP_001362882.1:p.Leu213Val, NP_001362866.1:p.Leu251Val, XP_047300671.1:p.Leu205Val, XP_047300651.1:p.Leu205Val, XP_047300649.1:p.Leu223Val, NP_001362881.1:p.Leu227Val, XP_047300650.1:p.Leu223Val, XP_047300648.1:p.Leu251Val, XP_047300653.1:p.Leu205Val, XP_047300647.1:p.Leu251Val

Select item 143318858613.

rs1433188586 [Homo sapiens]

Variant type:: INS
Alleles:: ->CATATGTTAATTAAATAG [Show Flanks]
Chromosome:: 2:188522823 (GRCh38)
2:189387551 (GRCh37)
Canonical SPDI:: NC_000002.12:188522823::CATATGTTAATTAAATAG
Gene:: GULP1 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000002.12:g.188522823_188522824insCATATGTTAATTAAATAG, NC_000002.11:g.189387550_189387551insCATATGTTAATTAAATAG, XM_006712583.5:c.158_159insCATATGTTAATTAAATAG, XM_006712583.4:c.158_159insCATATGTTAATTAAATAG, XM_006712583.3:c.158_159insCATATGTTAATTAAATAG, XM_006712583.2:c.158_159insCATATGTTAATTAAATAG, XM_006712583.1:c.158_159insCATATGTTAATTAAATAG, XM_006712584.5:c.158_159insCATATGTTAATTAAATAG, XM_006712584.4:c.158_159insCATATGTTAATTAAATAG, XM_006712584.3:c.158_159insCATATGTTAATTAAATAG, XM_006712584.2:c.158_159insCATATGTTAATTAAATAG, XM_006712584.1:c.158_159insCATATGTTAATTAAATAG, XM_006712580.5:c.158_159insCATATGTTAATTAAATAG, XM_006712580.4:c.158_159insCATATGTTAATTAAATAG, XM_006712580.3:c.158_159insCATATGTTAATTAAATAG, XM_006712580.2:c.158_159insCATATGTTAATTAAATAG, XM_006712580.1:c.158_159insCATATGTTAATTAAATAG, NM_016315.4:c.158_159insCATATGTTAATTAAATAG, NM_016315.3:c.158_159insCATATGTTAATTAAATAG, XM_006712589.4:c.158_159insCATATGTTAATTAAATAG, XM_006712589.3:c.158_159insCATATGTTAATTAAATAG, XM_006712589.2:c.158_159insCATATGTTAATTAAATAG, XM_006712589.1:c.158_159insCATATGTTAATTAAATAG, XM_011511335.3:c.158_159insCATATGTTAATTAAATAG, XM_011511335.2:c.158_159insCATATGTTAATTAAATAG, XM_011511335.1:c.158_159insCATATGTTAATTAAATAG, XM_006712582.2:c.158_159insCATATGTTAATTAAATAG, XM_006712582.1:c.158_159insCATATGTTAATTAAATAG, NR_045563.2:n.876_877insCATATGTTAATTAAATAG, XM_011511333.2:c.158_159insCATATGTTAATTAAATAG, XM_011511333.1:c.158_159insCATATGTTAATTAAATAG, NM_001252668.2:c.158_159insCATATGTTAATTAAATAG, NM_001252668.1:c.158_159insCATATGTTAATTAAATAG, NR_045562.2:n.614_615insCATATGTTAATTAAATAG, XM_011511331.2:c.119_120insCATATGTTAATTAAATAG, XM_011511331.1:c.119_120insCATATGTTAATTAAATAG, XM_011511329.2:c.158_159insCATATGTTAATTAAATAG, XM_011511329.1:c.158_159insCATATGTTAATTAAATAG, XM_017004307.2:c.158_159insCATATGTTAATTAAATAG, XM_017004307.1:c.158_159insCATATGTTAATTAAATAG, NM_001375936.1:c.158_159insCATATGTTAATTAAATAG, NM_001375929.1:c.158_159insCATATGTTAATTAAATAG, NR_045563.1:n.1041_1042insCATATGTTAATTAAATAG, NM_001375941.1:c.158_159insCATATGTTAATTAAATAG, NM_001375951.1:c.74_75insCATATGTTAATTAAATAG, NM_001375942.1:c.158_159insCATATGTTAATTAAATAG, NM_001375934.1:c.158_159insCATATGTTAATTAAATAG, NM_001375939.1:c.158_159insCATATGTTAATTAAATAG, NM_001375949.1:c.158_159insCATATGTTAATTAAATAG, NM_001375933.1:c.158_159insCATATGTTAATTAAATAG, NM_001375940.1:c.158_159insCATATGTTAATTAAATAG, NM_001375926.1:c.158_159insCATATGTTAATTAAATAG, NM_001375943.1:c.158_159insCATATGTTAATTAAATAG, NM_001375932.1:c.158_159insCATATGTTAATTAAATAG, NM_001375938.1:c.158_159insCATATGTTAATTAAATAG, NM_001375948.1:c.158_159insCATATGTTAATTAAATAG, XM_047444702.1:c.158_159insCATATGTTAATTAAATAG, NM_001375935.1:c.158_159insCATATGTTAATTAAATAG, NR_045562.1:n.779_780insCATATGTTAATTAAATAG, XM_047444696.1:c.158_159insCATATGTTAATTAAATAG, NM_001375953.1:c.158_159insCATATGTTAATTAAATAG, NM_001375937.1:c.158_159insCATATGTTAATTAAATAG, NR_164744.1:n.622_623insCATATGTTAATTAAATAG, XM_047444715.1:c.158_159insCATATGTTAATTAAATAG, NM_001375927.1:c.158_159insCATATGTTAATTAAATAG, XM_047444695.1:c.158_159insCATATGTTAATTAAATAG, XM_047444693.1:c.74_75insCATATGTTAATTAAATAG, NM_001375931.1:c.158_159insCATATGTTAATTAAATAG, NM_001375930.1:c.158_159insCATATGTTAATTAAATAG, XM_047444710.1:c.158_159insCATATGTTAATTAAATAG, NM_001375925.1:c.158_159insCATATGTTAATTAAATAG, NR_164745.1:n.614_615insCATATGTTAATTAAATAG, NM_001375928.1:c.158_159insCATATGTTAATTAAATAG, XM_047444709.1:c.158_159insCATATGTTAATTAAATAG, XM_047444694.1:c.74_75insCATATGTTAATTAAATAG, NM_001375945.1:c.158_159insCATATGTTAATTAAATAG, NM_001375944.1:c.158_159insCATATGTTAATTAAATAG, NM_001375950.1:c.158_159insCATATGTTAATTAAATAG, NM_001375946.1:c.158_159insCATATGTTAATTAAATAG, NM_001375947.1:c.158_159insCATATGTTAATTAAATAG, XM_047444711.1:c.158_159insCATATGTTAATTAAATAG, XM_047444692.1:c.158_159insCATATGTTAATTAAATAG, XM_047444697.1:c.158_159insCATATGTTAATTAAATAG, XM_047444705.1:c.158_159insCATATGTTAATTAAATAG, XM_047444704.1:c.158_159insCATATGTTAATTAAATAG, XM_047444707.1:c.158_159insCATATGTTAATTAAATAG, XM_047444703.1:c.158_159insCATATGTTAATTAAATAG, XM_047444714.1:c.158_159insCATATGTTAATTAAATAG, XM_047444706.1:c.158_159insCATATGTTAATTAAATAG, XM_047444691.1:c.158_159insCATATGTTAATTAAATAG, XM_047444712.1:c.158_159insCATATGTTAATTAAATAG, XM_047444713.1:c.158_159insCATATGTTAATTAAATAG, XM_047444701.1:c.158_159insCATATGTTAATTAAATAG, XM_047444699.1:c.158_159insCATATGTTAATTAAATAG, XM_047444698.1:c.158_159insCATATGTTAATTAAATAG, XM_047444700.1:c.158_159insCATATGTTAATTAAATAG, XM_047444708.1:c.158_159insCATATGTTAATTAAATAG, XP_006712646.1:p.Lys54_Phe55insIleCysTer, XP_006712647.1:p.Lys54_Phe55insIleCysTer, XP_006712643.1:p.Lys54_Phe55insIleCysTer, NP_057399.1:p.Lys54_Phe55insIleCysTer, XP_006712652.1:p.Lys54_Phe55insIleCysTer, XP_011509637.1:p.Lys54_Phe55insIleCysTer, XP_006712645.1:p.Lys54_Phe55insIleCysTer, XP_011509635.1:p.Lys54_Phe55insIleCysTer, NP_001239597.1:p.Lys54_Phe55insIleCysTer, XP_011509633.1:p.Lys41_Phe42insIleCysTer, XP_011509631.1:p.Lys54_Phe55insIleCysTer, XP_016859796.1:p.Lys54_Phe55insIleCysTer, NP_001362865.1:p.Lys54_Phe55insIleCysTer, NP_001362858.1:p.Lys54_Phe55insIleCysTer, NP_001362870.1:p.Lys54_Phe55insIleCysTer, NP_001362880.1:p.Lys26_Phe27insIleCysTer, NP_001362871.1:p.Lys54_Phe55insIleCysTer, NP_001362863.1:p.Lys54_Phe55insIleCysTer, NP_001362868.1:p.Lys54_Phe55insIleCysTer, NP_001362878.1:p.Lys54_Phe55insIleCysTer, NP_001362862.1:p.Lys54_Phe55insIleCysTer, NP_001362869.1:p.Lys54_Phe55insIleCysTer, NP_001362855.1:p.Lys54_Phe55insIleCysTer, NP_001362872.1:p.Lys54_Phe55insIleCysTer, NP_001362861.1:p.Lys54_Phe55insIleCysTer, NP_001362867.1:p.Lys54_Phe55insIleCysTer, NP_001362877.1:p.Lys54_Phe55insIleCysTer, XP_047300658.1:p.Lys54_Phe55insIleCysTer, NP_001362864.1:p.Lys54_Phe55insIleCysTer, XP_047300652.1:p.Lys54_Phe55insIleCysTer, NP_001362882.1:p.Lys54_Phe55insIleCysTer, NP_001362866.1:p.Lys54_Phe55insIleCysTer, XP_047300671.1:p.Lys54_Phe55insIleCysTer, NP_001362856.1:p.Lys54_Phe55insIleCysTer, XP_047300651.1:p.Lys54_Phe55insIleCysTer, XP_047300649.1:p.Lys26_Phe27insIleCysTer, NP_001362860.1:p.Lys54_Phe55insIleCysTer, NP_001362859.1:p.Lys54_Phe55insIleCysTer, XP_047300666.1:p.Lys54_Phe55insIleCysTer, NP_001362854.1:p.Lys54_Phe55insIleCysTer, NP_001362857.1:p.Lys54_Phe55insIleCysTer, XP_047300665.1:p.Lys54_Phe55insIleCysTer, XP_047300650.1:p.Lys26_Phe27insIleCysTer, NP_001362874.1:p.Lys54_Phe55insIleCysTer, NP_001362873.1:p.Lys54_Phe55insIleCysTer, NP_001362879.1:p.Lys54_Phe55insIleCysTer, NP_001362875.1:p.Lys54_Phe55insIleCysTer, NP_001362876.1:p.Lys54_Phe55insIleCysTer, XP_047300667.1:p.Lys54_Phe55insIleCysTer, XP_047300648.1:p.Lys54_Phe55insIleCysTer, XP_047300653.1:p.Lys54_Phe55insIleCysTer, XP_047300661.1:p.Lys54_Phe55insIleCysTer, XP_047300660.1:p.Lys54_Phe55insIleCysTer, XP_047300663.1:p.Lys54_Phe55insIleCysTer, XP_047300659.1:p.Lys54_Phe55insIleCysTer, XP_047300670.1:p.Lys54_Phe55insIleCysTer, XP_047300662.1:p.Lys54_Phe55insIleCysTer, XP_047300647.1:p.Lys54_Phe55insIleCysTer, XP_047300668.1:p.Lys54_Phe55insIleCysTer, XP_047300669.1:p.Lys54_Phe55insIleCysTer, XP_047300657.1:p.Lys54_Phe55insIleCysTer, XP_047300655.1:p.Lys54_Phe55insIleCysTer, XP_047300654.1:p.Lys54_Phe55insIleCysTer, XP_047300656.1:p.Lys54_Phe55insIleCysTer, XP_047300664.1:p.Lys54_Phe55insIleCysTer

Select item 142961220614.

rs1429612206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188541227 (GRCh38)
2:189405954 (GRCh37)
Canonical SPDI:: NC_000002.12:188541226:A:G
Gene:: GULP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.188541227A>G, NC_000002.11:g.189405954A>G, XM_006712583.5:c.308A>G, XM_006712583.4:c.308A>G, XM_006712583.3:c.308A>G, XM_006712583.2:c.308A>G, XM_006712583.1:c.308A>G, XM_006712584.5:c.308A>G, XM_006712584.4:c.308A>G, XM_006712584.3:c.308A>G, XM_006712584.2:c.308A>G, XM_006712584.1:c.308A>G, XM_006712580.5:c.308A>G, XM_006712580.4:c.308A>G, XM_006712580.3:c.308A>G, XM_006712580.2:c.308A>G, XM_006712580.1:c.308A>G, NM_016315.4:c.308A>G, NM_016315.3:c.308A>G, XM_006712589.4:c.308A>G, XM_006712589.3:c.308A>G, XM_006712589.2:c.308A>G, XM_006712589.1:c.308A>G, XM_006712582.2:c.308A>G, XM_006712582.1:c.308A>G, NR_045563.2:n.1026A>G, NM_001252668.2:c.308A>G, NM_001252668.1:c.308A>G, NR_045562.2:n.764A>G, XM_011511331.2:c.269A>G, XM_011511331.1:c.269A>G, XM_011511329.2:c.308A>G, XM_011511329.1:c.308A>G, NM_001375936.1:c.308A>G, NM_001375929.1:c.308A>G, NR_045563.1:n.1191A>G, NM_001375941.1:c.308A>G, NM_001375951.1:c.224A>G, NM_001375942.1:c.308A>G, NM_001375934.1:c.308A>G, NM_001375939.1:c.308A>G, NM_001375949.1:c.308A>G, NM_001375933.1:c.308A>G, NM_001375940.1:c.308A>G, NM_001375926.1:c.308A>G, NM_001375943.1:c.308A>G, NM_001375932.1:c.308A>G, NM_001375938.1:c.308A>G, NM_001375948.1:c.308A>G, XM_047444702.1:c.308A>G, NM_001375935.1:c.308A>G, NR_045562.1:n.929A>G, NM_001375937.1:c.308A>G, NR_164744.1:n.772A>G, NM_001375927.1:c.308A>G, XM_047444693.1:c.224A>G, NM_001375931.1:c.308A>G, NM_001375930.1:c.308A>G, NM_001375952.1:c.236A>G, NM_001375925.1:c.308A>G, NR_164745.1:n.760A>G, NM_001375928.1:c.308A>G, XM_047444694.1:c.224A>G, XM_047444692.1:c.308A>G, XM_047444705.1:c.308A>G, XM_047444704.1:c.308A>G, XM_047444707.1:c.308A>G, XM_047444703.1:c.308A>G, XM_047444706.1:c.308A>G, XM_047444691.1:c.308A>G, XM_047444701.1:c.308A>G, XM_047444699.1:c.308A>G, XM_047444698.1:c.308A>G, XM_047444700.1:c.308A>G, XP_006712646.1:p.Asp103Gly, XP_006712647.1:p.Asp103Gly, XP_006712643.1:p.Asp103Gly, NP_057399.1:p.Asp103Gly, XP_006712652.1:p.Asp103Gly, XP_006712645.1:p.Asp103Gly, NP_001239597.1:p.Asp103Gly, XP_011509633.1:p.Asp90Gly, XP_011509631.1:p.Asp103Gly, NP_001362865.1:p.Asp103Gly, NP_001362858.1:p.Asp103Gly, NP_001362870.1:p.Asp103Gly, NP_001362880.1:p.Asp75Gly, NP_001362871.1:p.Asp103Gly, NP_001362863.1:p.Asp103Gly, NP_001362868.1:p.Asp103Gly, NP_001362878.1:p.Asp103Gly, NP_001362862.1:p.Asp103Gly, NP_001362869.1:p.Asp103Gly, NP_001362855.1:p.Asp103Gly, NP_001362872.1:p.Asp103Gly, NP_001362861.1:p.Asp103Gly, NP_001362867.1:p.Asp103Gly, NP_001362877.1:p.Asp103Gly, XP_047300658.1:p.Asp103Gly, NP_001362864.1:p.Asp103Gly, NP_001362866.1:p.Asp103Gly, NP_001362856.1:p.Asp103Gly, XP_047300649.1:p.Asp75Gly, NP_001362860.1:p.Asp103Gly, NP_001362859.1:p.Asp103Gly, NP_001362881.1:p.Asp79Gly, NP_001362854.1:p.Asp103Gly, NP_001362857.1:p.Asp103Gly, XP_047300650.1:p.Asp75Gly, XP_047300648.1:p.Asp103Gly, XP_047300661.1:p.Asp103Gly, XP_047300660.1:p.Asp103Gly, XP_047300663.1:p.Asp103Gly, XP_047300659.1:p.Asp103Gly, XP_047300662.1:p.Asp103Gly, XP_047300647.1:p.Asp103Gly, XP_047300657.1:p.Asp103Gly, XP_047300655.1:p.Asp103Gly, XP_047300654.1:p.Asp103Gly, XP_047300656.1:p.Asp103Gly

Select item 142550178215.

rs1425501782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:188587922 (GRCh38)
2:189452649 (GRCh37)
Canonical SPDI:: NC_000002.12:188587921:T:C
Gene:: GULP1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.188587922T>C, NC_000002.11:g.189452649T>C, XM_006712583.5:c.1041T>C, XM_006712583.4:c.1041T>C, XM_006712583.3:c.1041T>C, XM_006712583.2:c.1041T>C, XM_006712583.1:c.1041T>C, XM_006712584.5:c.1041T>C, XM_006712584.4:c.1041T>C, XM_006712584.3:c.1041T>C, XM_006712584.2:c.1041T>C, XM_006712584.1:c.1041T>C, XM_006712580.5:c.1041T>C, XM_006712580.4:c.1041T>C, XM_006712580.3:c.1041T>C, XM_006712580.2:c.1041T>C, XM_006712580.1:c.1041T>C, NM_016315.4:c.816T>C, NM_016315.3:c.816T>C, XM_006712589.4:c.816T>C, XM_006712589.3:c.816T>C, XM_006712589.2:c.816T>C, XM_006712589.1:c.816T>C, XM_011511335.3:c.678T>C, XM_011511335.2:c.678T>C, XM_011511335.1:c.678T>C, XM_006712582.2:c.1041T>C, XM_006712582.1:c.1041T>C, NR_045563.2:n.1534T>C, XM_011511333.2:c.903T>C, XM_011511333.1:c.903T>C, NM_001252668.2:c.816T>C, NM_001252668.1:c.816T>C, NR_045562.2:n.1272T>C, XM_011511331.2:c.1002T>C, XM_011511331.1:c.1002T>C, NM_001252669.2:c.507T>C, NM_001252669.1:c.507T>C, XM_011511329.2:c.1041T>C, XM_011511329.1:c.1041T>C, XM_017004307.2:c.678T>C, XM_017004307.1:c.678T>C, NM_001375936.1:c.1041T>C, NM_001375929.1:c.816T>C, NR_045563.1:n.1699T>C, NM_001375941.1:c.1065T>C, NM_001375951.1:c.981T>C, NM_001375942.1:c.1065T>C, NM_001375934.1:c.1041T>C, NM_001375939.1:c.1041T>C, NM_001375949.1:c.1041T>C, NM_001375933.1:c.1041T>C, NM_001375940.1:c.1065T>C, NM_001375926.1:c.816T>C, NM_001375943.1:c.1065T>C, NM_001375932.1:c.1041T>C, NM_001375938.1:c.1041T>C, NM_001375948.1:c.1041T>C, XM_047444702.1:c.816T>C, NM_001375935.1:c.1041T>C, NR_045562.1:n.1437T>C, XM_047444696.1:c.903T>C, NM_001375953.1:c.927T>C, NM_001375937.1:c.1041T>C, NR_164744.1:n.1377T>C, XM_047444715.1:c.903T>C, NM_001375927.1:c.816T>C, XM_047444695.1:c.903T>C, XM_047444693.1:c.957T>C, NM_001375931.1:c.816T>C, NM_001375930.1:c.816T>C, XM_047444710.1:c.678T>C, NM_001375952.1:c.969T>C, NM_001375925.1:c.816T>C, NR_164745.1:n.1268T>C, NM_001375928.1:c.816T>C, XM_047444709.1:c.678T>C, XM_047444694.1:c.957T>C, NM_001375945.1:c.678T>C, NM_001375944.1:c.678T>C, NM_001375950.1:c.678T>C, NM_001375946.1:c.678T>C, NM_001375947.1:c.678T>C, XM_047444711.1:c.678T>C, XM_047444692.1:c.1041T>C, XM_047444697.1:c.903T>C, XM_047444705.1:c.816T>C, XM_047444704.1:c.816T>C, XM_047444707.1:c.816T>C, XM_047444703.1:c.816T>C, XM_047444714.1:c.678T>C, XM_047444706.1:c.816T>C, XM_047444691.1:c.1041T>C, XM_047444712.1:c.678T>C, XM_047444713.1:c.678T>C, XM_047444701.1:c.816T>C, XM_047444699.1:c.816T>C, XM_047444698.1:c.816T>C, XM_047444700.1:c.816T>C, XM_047444708.1:c.678T>C

Select item 142122804116.

rs1421228041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:188529186 (GRCh38)
2:189393913 (GRCh37)
Canonical SPDI:: NC_000002.12:188529185:C:A
Gene:: GULP1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.188529186C>A, NC_000002.11:g.189393913C>A, XM_006712583.5:c.252C>A, XM_006712583.4:c.252C>A, XM_006712583.3:c.252C>A, XM_006712583.2:c.252C>A, XM_006712583.1:c.252C>A, XM_006712584.5:c.252C>A, XM_006712584.4:c.252C>A, XM_006712584.3:c.252C>A, XM_006712584.2:c.252C>A, XM_006712584.1:c.252C>A, XM_006712580.5:c.252C>A, XM_006712580.4:c.252C>A, XM_006712580.3:c.252C>A, XM_006712580.2:c.252C>A, XM_006712580.1:c.252C>A, NM_016315.4:c.252C>A, NM_016315.3:c.252C>A, XM_006712589.4:c.252C>A, XM_006712589.3:c.252C>A, XM_006712589.2:c.252C>A, XM_006712589.1:c.252C>A, XM_011511335.3:c.252C>A, XM_011511335.2:c.252C>A, XM_011511335.1:c.252C>A, XM_006712582.2:c.252C>A, XM_006712582.1:c.252C>A, NR_045563.2:n.970C>A, XM_011511333.2:c.252C>A, XM_011511333.1:c.252C>A, NM_001252668.2:c.252C>A, NM_001252668.1:c.252C>A, NR_045562.2:n.708C>A, XM_011511331.2:c.213C>A, XM_011511331.1:c.213C>A, XM_011511329.2:c.252C>A, XM_011511329.1:c.252C>A, XM_017004307.2:c.252C>A, XM_017004307.1:c.252C>A, NM_001375936.1:c.252C>A, NM_001375929.1:c.252C>A, NR_045563.1:n.1135C>A, NM_001375941.1:c.252C>A, NM_001375951.1:c.168C>A, NM_001375942.1:c.252C>A, NM_001375934.1:c.252C>A, NM_001375939.1:c.252C>A, NM_001375949.1:c.252C>A, NM_001375933.1:c.252C>A, NM_001375940.1:c.252C>A, NM_001375926.1:c.252C>A, NM_001375943.1:c.252C>A, NM_001375932.1:c.252C>A, NM_001375938.1:c.252C>A, NM_001375948.1:c.252C>A, XM_047444702.1:c.252C>A, NM_001375935.1:c.252C>A, NR_045562.1:n.873C>A, XM_047444696.1:c.252C>A, NM_001375953.1:c.252C>A, NM_001375937.1:c.252C>A, NR_164744.1:n.716C>A, XM_047444715.1:c.252C>A, NM_001375927.1:c.252C>A, XM_047444695.1:c.252C>A, XM_047444693.1:c.168C>A, NM_001375931.1:c.252C>A, NM_001375930.1:c.252C>A, XM_047444710.1:c.252C>A, NM_001375952.1:c.180C>A, NM_001375925.1:c.252C>A, NR_164745.1:n.708C>A, NM_001375928.1:c.252C>A, XM_047444709.1:c.252C>A, XM_047444694.1:c.168C>A, NM_001375945.1:c.252C>A, NM_001375944.1:c.252C>A, NM_001375950.1:c.252C>A, NM_001375946.1:c.252C>A, NM_001375947.1:c.252C>A, XM_047444711.1:c.252C>A, XM_047444692.1:c.252C>A, XM_047444697.1:c.252C>A, XM_047444705.1:c.252C>A, XM_047444704.1:c.252C>A, XM_047444707.1:c.252C>A, XM_047444703.1:c.252C>A, XM_047444714.1:c.252C>A, XM_047444706.1:c.252C>A, XM_047444691.1:c.252C>A, XM_047444712.1:c.252C>A, XM_047444713.1:c.252C>A, XM_047444701.1:c.252C>A, XM_047444699.1:c.252C>A, XM_047444698.1:c.252C>A, XM_047444700.1:c.252C>A, XM_047444708.1:c.252C>A

Select item 141951349417.

rs1419513494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188587937 (GRCh38)
2:189452664 (GRCh37)
Canonical SPDI:: NC_000002.12:188587936:A:G
Gene:: GULP1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.188587937A>G, NC_000002.11:g.189452664A>G, XM_006712583.5:c.1056A>G, XM_006712583.4:c.1056A>G, XM_006712583.3:c.1056A>G, XM_006712583.2:c.1056A>G, XM_006712583.1:c.1056A>G, XM_006712584.5:c.1056A>G, XM_006712584.4:c.1056A>G, XM_006712584.3:c.1056A>G, XM_006712584.2:c.1056A>G, XM_006712584.1:c.1056A>G, XM_006712580.5:c.1056A>G, XM_006712580.4:c.1056A>G, XM_006712580.3:c.1056A>G, XM_006712580.2:c.1056A>G, XM_006712580.1:c.1056A>G, NM_016315.4:c.831A>G, NM_016315.3:c.831A>G, XM_006712589.4:c.831A>G, XM_006712589.3:c.831A>G, XM_006712589.2:c.831A>G, XM_006712589.1:c.831A>G, XM_011511335.3:c.693A>G, XM_011511335.2:c.693A>G, XM_011511335.1:c.693A>G, XM_006712582.2:c.1056A>G, XM_006712582.1:c.1056A>G, NR_045563.2:n.1549A>G, XM_011511333.2:c.918A>G, XM_011511333.1:c.918A>G, NM_001252668.2:c.831A>G, NM_001252668.1:c.831A>G, NR_045562.2:n.1287A>G, XM_011511331.2:c.1017A>G, XM_011511331.1:c.1017A>G, NM_001252669.2:c.522A>G, NM_001252669.1:c.522A>G, XM_011511329.2:c.1056A>G, XM_011511329.1:c.1056A>G, XM_017004307.2:c.693A>G, XM_017004307.1:c.693A>G, NM_001375936.1:c.1056A>G, NM_001375929.1:c.831A>G, NR_045563.1:n.1714A>G, NM_001375941.1:c.1080A>G, NM_001375951.1:c.996A>G, NM_001375942.1:c.1080A>G, NM_001375934.1:c.1056A>G, NM_001375939.1:c.1056A>G, NM_001375949.1:c.1056A>G, NM_001375933.1:c.1056A>G, NM_001375940.1:c.1080A>G, NM_001375926.1:c.831A>G, NM_001375943.1:c.1080A>G, NM_001375932.1:c.1056A>G, NM_001375938.1:c.1056A>G, NM_001375948.1:c.1056A>G, XM_047444702.1:c.831A>G, NM_001375935.1:c.1056A>G, NR_045562.1:n.1452A>G, XM_047444696.1:c.918A>G, NM_001375953.1:c.942A>G, NM_001375937.1:c.1056A>G, NR_164744.1:n.1392A>G, XM_047444715.1:c.918A>G, NM_001375927.1:c.831A>G, XM_047444695.1:c.918A>G, XM_047444693.1:c.972A>G, NM_001375931.1:c.831A>G, NM_001375930.1:c.831A>G, XM_047444710.1:c.693A>G, NM_001375952.1:c.984A>G, NM_001375925.1:c.831A>G, NR_164745.1:n.1283A>G, NM_001375928.1:c.831A>G, XM_047444709.1:c.693A>G, XM_047444694.1:c.972A>G, NM_001375945.1:c.693A>G, NM_001375944.1:c.693A>G, NM_001375950.1:c.693A>G, NM_001375946.1:c.693A>G, NM_001375947.1:c.693A>G, XM_047444711.1:c.693A>G, XM_047444692.1:c.1056A>G, XM_047444697.1:c.918A>G, XM_047444705.1:c.831A>G, XM_047444704.1:c.831A>G, XM_047444707.1:c.831A>G, XM_047444703.1:c.831A>G, XM_047444714.1:c.693A>G, XM_047444706.1:c.831A>G, XM_047444691.1:c.1056A>G, XM_047444712.1:c.693A>G, XM_047444713.1:c.693A>G, XM_047444701.1:c.831A>G, XM_047444699.1:c.831A>G, XM_047444698.1:c.831A>G, XM_047444700.1:c.831A>G, XM_047444708.1:c.693A>G

Select item 141940991218.

rs1419409912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:188569347 (GRCh38)
2:189434075 (GRCh37)
Canonical SPDI:: NC_000002.12:188569347:AAAAAA:AAAAAAA
Gene:: GULP1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.188569353dup, NC_000002.11:g.189434080dup, XM_006712583.5:c.514dup, XM_006712583.4:c.514dup, XM_006712583.3:c.514dup, XM_006712583.2:c.514dup, XM_006712583.1:c.514dup, XM_006712584.5:c.514dup, XM_006712584.4:c.514dup, XM_006712584.3:c.514dup, XM_006712584.2:c.514dup, XM_006712584.1:c.514dup, XM_006712580.5:c.514dup, XM_006712580.4:c.514dup, XM_006712580.3:c.514dup, XM_006712580.2:c.514dup, XM_006712580.1:c.514dup, NM_016315.4:c.514dup, NM_016315.3:c.514dup, XM_006712589.4:c.514dup, XM_006712589.3:c.514dup, XM_006712589.2:c.514dup, XM_006712589.1:c.514dup, XM_011511335.3:c.376dup, XM_011511335.2:c.376dup, XM_011511335.1:c.376dup, XM_006712582.2:c.514dup, XM_006712582.1:c.514dup, NR_045563.2:n.1232dup, XM_011511333.2:c.376dup, XM_011511333.1:c.376dup, NM_001252668.2:c.514dup, NM_001252668.1:c.514dup, NR_045562.2:n.970dup, XM_011511331.2:c.475dup, XM_011511331.1:c.475dup, NM_001252669.2:c.205dup, NM_001252669.1:c.205dup, XM_011511329.2:c.514dup, XM_011511329.1:c.514dup, XM_017004307.2:c.376dup, XM_017004307.1:c.376dup, NM_001375936.1:c.514dup, NM_001375929.1:c.514dup, NR_045563.1:n.1397dup, NM_001375941.1:c.514dup, NM_001375951.1:c.430dup, NM_001375942.1:c.514dup, NM_001375934.1:c.514dup, NM_001375939.1:c.514dup, NM_001375949.1:c.514dup, NM_001375933.1:c.514dup, NM_001375940.1:c.514dup, NM_001375926.1:c.514dup, NM_001375943.1:c.514dup, NM_001375932.1:c.514dup, NM_001375938.1:c.514dup, NM_001375948.1:c.514dup, XM_047444702.1:c.514dup, NM_001375935.1:c.514dup, NR_045562.1:n.1135dup, XM_047444696.1:c.376dup, NM_001375953.1:c.376dup, NM_001375937.1:c.514dup, NR_164744.1:n.978dup, XM_047444715.1:c.376dup, NM_001375927.1:c.514dup, XM_047444695.1:c.376dup, XM_047444693.1:c.430dup, NM_001375931.1:c.514dup, NM_001375930.1:c.514dup, XM_047444710.1:c.376dup, NM_001375952.1:c.442dup, NM_001375925.1:c.514dup, NR_164745.1:n.966dup, NM_001375928.1:c.514dup, XM_047444709.1:c.376dup, XM_047444694.1:c.430dup, NM_001375945.1:c.376dup, NM_001375944.1:c.376dup, NM_001375950.1:c.376dup, NM_001375946.1:c.376dup, NM_001375947.1:c.376dup, XM_047444711.1:c.376dup, XM_047444692.1:c.514dup, XM_047444697.1:c.376dup, XM_047444705.1:c.514dup, XM_047444704.1:c.514dup, XM_047444707.1:c.514dup, XM_047444703.1:c.514dup, XM_047444714.1:c.376dup, XM_047444706.1:c.514dup, XM_047444691.1:c.514dup, XM_047444712.1:c.376dup, XM_047444713.1:c.376dup, XM_047444701.1:c.514dup, XM_047444699.1:c.514dup, XM_047444698.1:c.514dup, XM_047444700.1:c.514dup, XM_047444708.1:c.376dup, XP_006712646.1:p.Arg172fs, XP_006712647.1:p.Arg172fs, XP_006712643.1:p.Arg172fs, NP_057399.1:p.Arg172fs, XP_006712652.1:p.Arg172fs, XP_011509637.1:p.Arg126fs, XP_006712645.1:p.Arg172fs, XP_011509635.1:p.Arg126fs, NP_001239597.1:p.Arg172fs, XP_011509633.1:p.Arg159fs, NP_001239598.1:p.Arg69fs, XP_011509631.1:p.Arg172fs, XP_016859796.1:p.Arg126fs, NP_001362865.1:p.Arg172fs, NP_001362858.1:p.Arg172fs, NP_001362870.1:p.Arg172fs, NP_001362880.1:p.Arg144fs, NP_001362871.1:p.Arg172fs, NP_001362863.1:p.Arg172fs, NP_001362868.1:p.Arg172fs, NP_001362878.1:p.Arg172fs, NP_001362862.1:p.Arg172fs, NP_001362869.1:p.Arg172fs, NP_001362855.1:p.Arg172fs, NP_001362872.1:p.Arg172fs, NP_001362861.1:p.Arg172fs, NP_001362867.1:p.Arg172fs, NP_001362877.1:p.Arg172fs, XP_047300658.1:p.Arg172fs, NP_001362864.1:p.Arg172fs, XP_047300652.1:p.Arg126fs, NP_001362882.1:p.Arg126fs, NP_001362866.1:p.Arg172fs, XP_047300671.1:p.Arg126fs, NP_001362856.1:p.Arg172fs, XP_047300651.1:p.Arg126fs, XP_047300649.1:p.Arg144fs, NP_001362860.1:p.Arg172fs, NP_001362859.1:p.Arg172fs, XP_047300666.1:p.Arg126fs, NP_001362881.1:p.Arg148fs, NP_001362854.1:p.Arg172fs, NP_001362857.1:p.Arg172fs, XP_047300665.1:p.Arg126fs, XP_047300650.1:p.Arg144fs, NP_001362874.1:p.Arg126fs, NP_001362873.1:p.Arg126fs, NP_001362879.1:p.Arg126fs, NP_001362875.1:p.Arg126fs, NP_001362876.1:p.Arg126fs, XP_047300667.1:p.Arg126fs, XP_047300648.1:p.Arg172fs, XP_047300653.1:p.Arg126fs, XP_047300661.1:p.Arg172fs, XP_047300660.1:p.Arg172fs, XP_047300663.1:p.Arg172fs, XP_047300659.1:p.Arg172fs, XP_047300670.1:p.Arg126fs, XP_047300662.1:p.Arg172fs, XP_047300647.1:p.Arg172fs, XP_047300668.1:p.Arg126fs, XP_047300669.1:p.Arg126fs, XP_047300657.1:p.Arg172fs, XP_047300655.1:p.Arg172fs, XP_047300654.1:p.Arg172fs, XP_047300656.1:p.Arg172fs, XP_047300664.1:p.Arg126fs

Select item 141641128119.

rs1416411281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188541182 (GRCh38)
2:189405909 (GRCh37)
Canonical SPDI:: NC_000002.12:188541181:A:G
Gene:: GULP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.188541182A>G, NC_000002.11:g.189405909A>G, XM_006712583.5:c.263A>G, XM_006712583.4:c.263A>G, XM_006712583.3:c.263A>G, XM_006712583.2:c.263A>G, XM_006712583.1:c.263A>G, XM_006712584.5:c.263A>G, XM_006712584.4:c.263A>G, XM_006712584.3:c.263A>G, XM_006712584.2:c.263A>G, XM_006712584.1:c.263A>G, XM_006712580.5:c.263A>G, XM_006712580.4:c.263A>G, XM_006712580.3:c.263A>G, XM_006712580.2:c.263A>G, XM_006712580.1:c.263A>G, NM_016315.4:c.263A>G, NM_016315.3:c.263A>G, XM_006712589.4:c.263A>G, XM_006712589.3:c.263A>G, XM_006712589.2:c.263A>G, XM_006712589.1:c.263A>G, XM_006712582.2:c.263A>G, XM_006712582.1:c.263A>G, NR_045563.2:n.981A>G, NM_001252668.2:c.263A>G, NM_001252668.1:c.263A>G, NR_045562.2:n.719A>G, XM_011511331.2:c.224A>G, XM_011511331.1:c.224A>G, XM_011511329.2:c.263A>G, XM_011511329.1:c.263A>G, NM_001375936.1:c.263A>G, NM_001375929.1:c.263A>G, NR_045563.1:n.1146A>G, NM_001375941.1:c.263A>G, NM_001375951.1:c.179A>G, NM_001375942.1:c.263A>G, NM_001375934.1:c.263A>G, NM_001375939.1:c.263A>G, NM_001375949.1:c.263A>G, NM_001375933.1:c.263A>G, NM_001375940.1:c.263A>G, NM_001375926.1:c.263A>G, NM_001375943.1:c.263A>G, NM_001375932.1:c.263A>G, NM_001375938.1:c.263A>G, NM_001375948.1:c.263A>G, XM_047444702.1:c.263A>G, NM_001375935.1:c.263A>G, NR_045562.1:n.884A>G, NM_001375937.1:c.263A>G, NR_164744.1:n.727A>G, NM_001375927.1:c.263A>G, XM_047444693.1:c.179A>G, NM_001375931.1:c.263A>G, NM_001375930.1:c.263A>G, NM_001375952.1:c.191A>G, NM_001375925.1:c.263A>G, NM_001375928.1:c.263A>G, XM_047444694.1:c.179A>G, XM_047444692.1:c.263A>G, XM_047444705.1:c.263A>G, XM_047444704.1:c.263A>G, XM_047444707.1:c.263A>G, XM_047444703.1:c.263A>G, XM_047444706.1:c.263A>G, XM_047444691.1:c.263A>G, XM_047444701.1:c.263A>G, XM_047444699.1:c.263A>G, XM_047444698.1:c.263A>G, XM_047444700.1:c.263A>G, XP_006712646.1:p.Glu88Gly, XP_006712647.1:p.Glu88Gly, XP_006712643.1:p.Glu88Gly, NP_057399.1:p.Glu88Gly, XP_006712652.1:p.Glu88Gly, XP_006712645.1:p.Glu88Gly, NP_001239597.1:p.Glu88Gly, XP_011509633.1:p.Glu75Gly, XP_011509631.1:p.Glu88Gly, NP_001362865.1:p.Glu88Gly, NP_001362858.1:p.Glu88Gly, NP_001362870.1:p.Glu88Gly, NP_001362880.1:p.Glu60Gly, NP_001362871.1:p.Glu88Gly, NP_001362863.1:p.Glu88Gly, NP_001362868.1:p.Glu88Gly, NP_001362878.1:p.Glu88Gly, NP_001362862.1:p.Glu88Gly, NP_001362869.1:p.Glu88Gly, NP_001362855.1:p.Glu88Gly, NP_001362872.1:p.Glu88Gly, NP_001362861.1:p.Glu88Gly, NP_001362867.1:p.Glu88Gly, NP_001362877.1:p.Glu88Gly, XP_047300658.1:p.Glu88Gly, NP_001362864.1:p.Glu88Gly, NP_001362866.1:p.Glu88Gly, NP_001362856.1:p.Glu88Gly, XP_047300649.1:p.Glu60Gly, NP_001362860.1:p.Glu88Gly, NP_001362859.1:p.Glu88Gly, NP_001362881.1:p.Glu64Gly, NP_001362854.1:p.Glu88Gly, NP_001362857.1:p.Glu88Gly, XP_047300650.1:p.Glu60Gly, XP_047300648.1:p.Glu88Gly, XP_047300661.1:p.Glu88Gly, XP_047300660.1:p.Glu88Gly, XP_047300663.1:p.Glu88Gly, XP_047300659.1:p.Glu88Gly, XP_047300662.1:p.Glu88Gly, XP_047300647.1:p.Glu88Gly, XP_047300657.1:p.Glu88Gly, XP_047300655.1:p.Glu88Gly, XP_047300654.1:p.Glu88Gly, XP_047300656.1:p.Glu88Gly

Select item 141316005920.

rs1413160059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188491576 (GRCh38)
2:189356303 (GRCh37)
Canonical SPDI:: NC_000002.12:188491575:A:G
Gene:: GULP1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.188491576A>G, NC_000002.11:g.189356303A>G, XM_011511331.2:c.33A>G, XM_011511331.1:c.33A>G, XM_047444693.1:c.-124A>G

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