Canonical Allele Identifier: CA1183031
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158649938A>C
GRCh37 chr1:g.158619728A>C
Revel Score:
ENST00000368148 0.069
ENST00000368147 0.069
gnomAD v2:
1:158619728 A / C
gnomAD v3:
1:158649938 A / C
gnomAD v4:
chr1-158649938-A-C
Joint Max Group AF 0.99847954 (NFE)
Genomes Max Group AF 0.99368781 (NFE)
Exomes Max Group AF 0.99843414 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158649938A>C , CM000663.2:g.158649938A>C GRCh38
NC_000001.10:g.158619728A>C , CM000663.1:g.158619728A>C GRCh37
NC_000001.9:g.156886352A>C NCBI36
NG_011474.1:g.41779T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.3487T>G MANE Select ENSP00000495214.1:p.Ser1163Ala
ENST00000368147.8:c.3487T>G ENSP00000357129.4:p.Ser1163Ala
ENST00000614909.4:c.3487T>G ENSP00000482595.1:p.Ser1163Ala
NM_003126.2:c.3487T>G NP_003117.2:p.Ser1163Ala
XM_011509916.1:c.3487T>G XP_011508218.1:p.Ser1163Ala
XM_011509917.1:c.3487T>G XP_011508219.1:p.Ser1163Ala
XM_011509918.1:c.3487T>G XP_011508220.1:p.Ser1163Ala
XM_011509919.1:c.3487T>G XP_011508221.1:p.Ser1163Ala
XR_921911.1:n.3600T>G
XR_921912.1:n.3605T>G
NM_003126.3:c.3487T>G NP_003117.2:p.Ser1163Ala
XM_011509916.2:c.3487T>G XP_011508218.1:p.Ser1163Ala
XM_011509917.3:c.3487T>G XP_011508219.1:p.Ser1163Ala
XM_011509918.3:c.3487T>G XP_011508220.1:p.Ser1163Ala
XM_011509919.3:c.3487T>G XP_011508221.1:p.Ser1163Ala
XR_921911.3:n.3613T>G
XR_921912.2:n.3615T>G
NM_003126.4:c.3487T>G MANE Select NP_003117.2:p.Ser1163Ala
Search 100 bp 5'
Search 100 bp 3'