Canonical Allele Identifier: CA1183560
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158667938T>C
GRCh37 chr1:g.158637728T>C
Revel Score:
ENST00000368148 0.344
ENST00000368147 0.344
gnomAD v2:
1:158637728 T / C
gnomAD v3:
1:158667938 T / C
gnomAD v4:
chr1-158667938-T-C
Joint Max Group AF 0.01297621 (MID)
Genomes Max Group AF 0.01103009 (NFE)
Exomes Max Group AF 0.01284615 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158667938T>C , CM000663.2:g.158667938T>C GRCh38
NC_000001.10:g.158637728T>C , CM000663.1:g.158637728T>C GRCh37
NC_000001.9:g.156904352T>C NCBI36
NG_011474.1:g.23779A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.1958A>G MANE Select ENSP00000495214.1:p.Tyr653Cys
ENST00000368147.8:c.1958A>G ENSP00000357129.4:p.Tyr653Cys
ENST00000614909.4:c.1958A>G ENSP00000482595.1:p.Tyr653Cys
NM_003126.2:c.1958A>G NP_003117.2:p.Tyr653Cys
XM_011509916.1:c.1958A>G XP_011508218.1:p.Tyr653Cys
XM_011509917.1:c.1958A>G XP_011508219.1:p.Tyr653Cys
XM_011509918.1:c.1958A>G XP_011508220.1:p.Tyr653Cys
XM_011509919.1:c.1958A>G XP_011508221.1:p.Tyr653Cys
XR_921911.1:n.2071A>G
XR_921912.1:n.2076A>G
NM_003126.3:c.1958A>G NP_003117.2:p.Tyr653Cys
XM_011509916.2:c.1958A>G XP_011508218.1:p.Tyr653Cys
XM_011509917.3:c.1958A>G XP_011508219.1:p.Tyr653Cys
XM_011509918.3:c.1958A>G XP_011508220.1:p.Tyr653Cys
XM_011509919.3:c.1958A>G XP_011508221.1:p.Tyr653Cys
XR_921911.3:n.2084A>G
XR_921912.2:n.2086A>G
NM_003126.4:c.1958A>G MANE Select NP_003117.2:p.Tyr653Cys
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