SNP Links for Protein (Select 402534565) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6375590 (GRCh38)
12:6484756 (GRCh37)
Canonical SPDI:: NC_000012.12:6375589:T:C
Gene:: LTBR (Varview), SCNN1A (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6375590T>C, NC_000012.11:g.6484756T>C, NG_011945.2:g.6768A>G, NG_033039.2:g.5223T>C, NM_001270987.2:c.35T>C, NM_001270987.1:c.35T>C, NM_001038.5:c.-140A>G, NP_001257916.1:p.Leu12Ser

Select item 147047913411.

rs1470479134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6390285 (GRCh38)
12:6499451 (GRCh37)
Canonical SPDI:: NC_000012.12:6390284:G:A
Gene:: LTBR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6390285G>A, NC_000012.11:g.6499451G>A, NG_033039.2:g.19918G>A, NM_002342.3:c.975G>A, NM_002342.2:c.975G>A, NM_001270987.2:c.918G>A, NM_001270987.1:c.918G>A, XM_005253688.3:c.867G>A, XM_005253688.2:c.867G>A, XM_005253688.1:c.867G>A

Select item 146499185212.

rs1464991852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6390121 (GRCh38)
12:6499287 (GRCh37)
Canonical SPDI:: NC_000012.12:6390120:C:G
Gene:: LTBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000012.12:g.6390121C>G, NC_000012.11:g.6499287C>G, NG_033039.2:g.19754C>G, NM_002342.3:c.811C>G, NM_002342.2:c.811C>G, NM_001270987.2:c.754C>G, NM_001270987.1:c.754C>G, XM_005253688.3:c.703C>G, XM_005253688.2:c.703C>G, XM_005253688.1:c.703C>G, NP_002333.1:p.Pro271Ala, NP_001257916.1:p.Pro252Ala, XP_005253745.1:p.Pro235Ala

Select item 146351639513.

rs1463516395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCAGGTGAGTGCAGCCCCAC [Show Flanks]
Chromosome:: 12:6386148 (GRCh38)
12:6495315 (GRCh37)
Canonical SPDI:: NC_000012.12:6386148:CAGCCCCACACCAGGTGAGTGCAGCCCCAC:CAGCCCCACACCAGGTGAGTGCAGCCCCACACCAGGTGAGTGCAGCCCCAC
Gene:: LTBR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: CAGCCCCACACCAGGTGAGTGCAGCCCCACACCAGGTGAGTGCAGCCCCAC=0.000084/1 (ALFA)
CAGCCCCACACCAGGTGAGTG=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6386158_6386178dup, NC_000012.11:g.6495324_6495344dup, NG_033039.2:g.15791_15811dup

Select item 146126004014.

rs1461260040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6388810 (GRCh38)
12:6497976 (GRCh37)
Canonical SPDI:: NC_000012.12:6388809:C:G
Gene:: LTBR (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6388810C>G, NC_000012.11:g.6497976C>G, NG_033039.2:g.18443C>G, NM_002342.3:c.786C>G, NM_002342.2:c.786C>G, NM_001270987.2:c.729C>G, NM_001270987.1:c.729C>G, XM_005253688.3:c.678C>G, XM_005253688.2:c.678C>G, XM_005253688.1:c.678C>G

Select item 145616547615.

rs1456165476 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:6386152 (GRCh38)
12:6495318 (GRCh37)
Canonical SPDI:: NC_000012.12:6386151:CCCC:CCC
Gene:: LTBR (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6386155del, NC_000012.11:g.6495321del, NG_033039.2:g.15788del, NM_002342.3:c.562del, NM_002342.2:c.562del, NM_001270987.2:c.505del, NM_001270987.1:c.505del, XM_006718983.4:c.562del, XM_006718983.3:c.562del, XM_006718983.2:c.562del, XM_006718983.1:c.562del, XM_005253688.3:c.562del, XM_005253688.2:c.562del, XM_005253688.1:c.562del, NP_002333.1:p.His188fs, NP_001257916.1:p.His169fs, XP_006719046.1:p.His188fs, XP_005253745.1:p.His188fs

Select item 145077905216.

rs1450779052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6390259 (GRCh38)
12:6499425 (GRCh37)
Canonical SPDI:: NC_000012.12:6390258:G:A
Gene:: LTBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6390259G>A, NC_000012.11:g.6499425G>A, NG_033039.2:g.19892G>A, NM_002342.3:c.949G>A, NM_002342.2:c.949G>A, NM_001270987.2:c.892G>A, NM_001270987.1:c.892G>A, XM_005253688.3:c.841G>A, XM_005253688.2:c.841G>A, XM_005253688.1:c.841G>A, NP_002333.1:p.Gly317Arg, NP_001257916.1:p.Gly298Arg, XP_005253745.1:p.Gly281Arg

Select item 144942248217.

rs1449422482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6384600 (GRCh38)
12:6493766 (GRCh37)
Canonical SPDI:: NC_000012.12:6384599:G:C
Gene:: LTBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6384600G>C, NC_000012.11:g.6493766G>C, NG_033039.2:g.14233G>C, NM_002342.3:c.109G>C, NM_002342.2:c.109G>C, NM_001270987.2:c.52G>C, NM_001270987.1:c.52G>C, XM_006718983.4:c.109G>C, XM_006718983.3:c.109G>C, XM_006718983.2:c.109G>C, XM_006718983.1:c.109G>C, XM_005253688.3:c.109G>C, XM_005253688.2:c.109G>C, XM_005253688.1:c.109G>C, NP_002333.1:p.Ala37Pro, NP_001257916.1:p.Ala18Pro, XP_006719046.1:p.Ala37Pro, XP_005253745.1:p.Ala37Pro

Select item 144695762918.

rs1446957629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:6386411 (GRCh38)
12:6495577 (GRCh37)
Canonical SPDI:: NC_000012.12:6386410:A:T
Gene:: LTBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6386411A>T, NC_000012.11:g.6495577A>T, NG_033039.2:g.16044A>T, NM_002342.3:c.634A>T, NM_002342.2:c.634A>T, NM_001270987.2:c.577A>T, NM_001270987.1:c.577A>T, XM_006718983.4:c.634A>T, XM_006718983.3:c.634A>T, XM_006718983.2:c.634A>T, XM_006718983.1:c.634A>T, XM_005253688.3:c.634A>T, XM_005253688.2:c.634A>T, XM_005253688.1:c.634A>T, NP_002333.1:p.Asn212Tyr, NP_001257916.1:p.Asn193Tyr, XP_006719046.1:p.Asn212Tyr, XP_005253745.1:p.Asn212Tyr

Select item 144416771319.

rs1444167713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6375578 (GRCh38)
12:6484744 (GRCh37)
Canonical SPDI:: NC_000012.12:6375577:T:C
Gene:: LTBR (Varview), SCNN1A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.6375578T>C, NC_000012.11:g.6484744T>C, NG_011945.2:g.6780A>G, NG_033039.2:g.5211T>C, NM_001270987.2:c.23T>C, NM_001270987.1:c.23T>C, NM_001038.5:c.-128A>G, NP_001257916.1:p.Leu8Ser

Select item 144396607920.

rs1443966079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6390280 (GRCh38)
12:6499446 (GRCh37)
Canonical SPDI:: NC_000012.12:6390279:C:T
Gene:: LTBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6390280C>T, NC_000012.11:g.6499446C>T, NG_033039.2:g.19913C>T, NM_002342.3:c.970C>T, NM_002342.2:c.970C>T, NM_001270987.2:c.913C>T, NM_001270987.1:c.913C>T, XM_005253688.3:c.862C>T, XM_005253688.2:c.862C>T, XM_005253688.1:c.862C>T, NP_002333.1:p.Pro324Ser, NP_001257916.1:p.Pro305Ser, XP_005253745.1:p.Pro288Ser

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