SNP Links for Protein (Select 60218901) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92242289 (GRCh38)
1:92707846 (GRCh37)
Canonical SPDI:: NC_000001.11:92242288:T:C
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92242289T>C, NC_000001.10:g.92707846T>C, XM_011541447.3:c.144T>C, XM_011541447.2:c.144T>C, XM_011541447.1:c.144T>C, NM_001012425.2:c.144T>C, NM_001012425.1:c.144T>C

Select item 142180838812.

rs1421808388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:92231443 (GRCh38)
1:92697000 (GRCh37)
Canonical SPDI:: NC_000001.11:92231442:A:C
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92231443A>C, NC_000001.10:g.92697000A>C, XM_011541447.3:c.23A>C, XM_011541447.2:c.23A>C, XM_011541447.1:c.23A>C, NM_001012425.2:c.23A>C, NM_001012425.1:c.23A>C, XM_047420085.1:c.-61A>C, XP_011539749.1:p.Lys8Thr, NP_001012425.1:p.Lys8Thr

Select item 142101432113.

rs1421014321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92245652 (GRCh38)
1:92711209 (GRCh37)
Canonical SPDI:: NC_000001.11:92245651:G:A
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/2 (ALFA)
A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92245652G>A, NC_000001.10:g.92711209G>A, NG_009796.1:g.58358C>T, XM_011541447.3:c.521G>A, XM_011541447.2:c.521G>A, XM_011541447.1:c.521G>A, NM_001012425.2:c.521G>A, NM_001012425.1:c.521G>A, XM_047420086.1:c.344G>A, XM_047420085.1:c.344G>A, XP_011539749.1:p.Ser174Asn, NP_001012425.1:p.Ser174Asn, XP_047276042.1:p.Ser115Asn, XP_047276041.1:p.Ser115Asn

Select item 140060293814.

rs1400602938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:92245599 (GRCh38)
1:92711156 (GRCh37)
Canonical SPDI:: NC_000001.11:92245598:C:T
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.92245599C>T, NC_000001.10:g.92711156C>T, NG_009796.1:g.58411G>A, XM_011541447.3:c.468C>T, XM_011541447.2:c.468C>T, XM_011541447.1:c.468C>T, NM_001012425.2:c.468C>T, NM_001012425.1:c.468C>T, XM_047420086.1:c.291C>T, XM_047420085.1:c.291C>T

Select item 139593175915.

rs1395931759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92244828 (GRCh38)
1:92710385 (GRCh37)
Canonical SPDI:: NC_000001.11:92244827:G:A
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0./0 (PRJEB36033)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.92244828G>A, NC_000001.10:g.92710385G>A, NG_009796.1:g.59182C>T, XM_011541447.3:c.379G>A, XM_011541447.2:c.379G>A, XM_011541447.1:c.379G>A, NM_001012425.2:c.379G>A, NM_001012425.1:c.379G>A, XM_047420086.1:c.202G>A, XM_047420085.1:c.202G>A, XP_011539749.1:p.Ala127Thr, NP_001012425.1:p.Ala127Thr, XP_047276042.1:p.Ala68Thr, XP_047276041.1:p.Ala68Thr

Select item 139588321916.

rs1395883219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:92244336 (GRCh38)
1:92709893 (GRCh37)
Canonical SPDI:: NC_000001.11:92244335:G:A,NC_000001.11:92244335:G:C
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.92244336G>A, NC_000001.11:g.92244336G>C, NC_000001.10:g.92709893G>A, NC_000001.10:g.92709893G>C, XM_011541447.3:c.280G>A, XM_011541447.3:c.280G>C, XM_011541447.2:c.280G>A, XM_011541447.2:c.280G>C, XM_011541447.1:c.280G>A, XM_011541447.1:c.280G>C, NM_001012425.2:c.280G>A, NM_001012425.2:c.280G>C, NM_001012425.1:c.280G>A, NM_001012425.1:c.280G>C, XM_047420086.1:c.103G>A, XM_047420086.1:c.103G>C, XM_047420085.1:c.103G>A, XM_047420085.1:c.103G>C, XP_011539749.1:p.Ala94Thr, XP_011539749.1:p.Ala94Pro, NP_001012425.1:p.Ala94Thr, NP_001012425.1:p.Ala94Pro, XP_047276042.1:p.Ala35Thr, XP_047276042.1:p.Ala35Pro, XP_047276041.1:p.Ala35Thr, XP_047276041.1:p.Ala35Pro

Select item 139542694717.

rs1395426947 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:92244303 (GRCh38)
1:92709861 (GRCh37)
Canonical SPDI:: NC_000001.11:92244303:TT:TTT
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92244305dup, NC_000001.10:g.92709862dup, XM_011541447.3:c.249dup, XM_011541447.2:c.249dup, XM_011541447.1:c.249dup, NM_001012425.2:c.249dup, NM_001012425.1:c.249dup, XM_047420086.1:c.72dup, XM_047420085.1:c.72dup, XP_011539749.1:p.His84fs, NP_001012425.1:p.His84fs, XP_047276042.1:p.His25fs, XP_047276041.1:p.His25fs

Select item 138729389318.

rs1387293893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:92244817 (GRCh38)
1:92710374 (GRCh37)
Canonical SPDI:: NC_000001.11:92244816:A:G
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92244817A>G, NC_000001.10:g.92710374A>G, NG_009796.1:g.59193T>C, XM_011541447.3:c.368A>G, XM_011541447.2:c.368A>G, XM_011541447.1:c.368A>G, NM_001012425.2:c.368A>G, NM_001012425.1:c.368A>G, XM_047420086.1:c.191A>G, XM_047420085.1:c.191A>G, XP_011539749.1:p.Asn123Ser, NP_001012425.1:p.Asn123Ser, XP_047276042.1:p.Asn64Ser, XP_047276041.1:p.Asn64Ser

Select item 138697408819.

rs1386974088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:92244797 (GRCh38)
1:92710354 (GRCh37)
Canonical SPDI:: NC_000001.11:92244796:A:T
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92244797A>T, NC_000001.10:g.92710354A>T, NG_009796.1:g.59213T>A, XM_011541447.3:c.348A>T, XM_011541447.2:c.348A>T, XM_011541447.1:c.348A>T, NM_001012425.2:c.348A>T, NM_001012425.1:c.348A>T, XM_047420086.1:c.171A>T, XM_047420085.1:c.171A>T, XP_011539749.1:p.Leu116Phe, NP_001012425.1:p.Leu116Phe, XP_047276042.1:p.Leu57Phe, XP_047276041.1:p.Leu57Phe

Select item 138528038120.

rs1385280381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92242224 (GRCh38)
1:92707781 (GRCh37)
Canonical SPDI:: NC_000001.11:92242223:G:A
Gene:: C1orf146 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.92242224G>A, NC_000001.10:g.92707781G>A, XM_011541447.3:c.79G>A, XM_011541447.2:c.79G>A, XM_011541447.1:c.79G>A, NM_001012425.2:c.79G>A, NM_001012425.1:c.79G>A, XP_011539749.1:p.Ala27Thr, NP_001012425.1:p.Ala27Thr

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