Canonical Allele Identifier: CA1182881
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158645551A>G
GRCh37 chr1:g.158615341A>G
Revel Score:
ENST00000368148 0.466
ENST00000368147 0.466
gnomAD v2:
1:158615341 A / G
gnomAD v3:
1:158645551 A / G
gnomAD v4:
chr1-158645551-A-G
Joint Max Group AF 0.0002189 (NFE)
Genomes Max Group AF 0.00017081 (NFE)
Exomes Max Group AF 0.00021699 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158645551A>G , CM000663.2:g.158645551A>G GRCh38
NC_000001.10:g.158615341A>G , CM000663.1:g.158615341A>G GRCh37
NC_000001.9:g.156881965A>G NCBI36
NG_011474.1:g.46166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.3940T>C MANE Select ENSP00000495214.1:p.Ser1314Pro
ENST00000368147.8:c.3940T>C ENSP00000357129.4:p.Ser1314Pro
ENST00000614909.4:c.3940T>C ENSP00000482595.1:p.Ser1314Pro
NM_003126.2:c.3940T>C NP_003117.2:p.Ser1314Pro
XM_011509916.1:c.3940T>C XP_011508218.1:p.Ser1314Pro
XM_011509917.1:c.3940T>C XP_011508219.1:p.Ser1314Pro
XM_011509918.1:c.3940T>C XP_011508220.1:p.Ser1314Pro
XM_011509919.1:c.3940T>C XP_011508221.1:p.Ser1314Pro
XR_921911.1:n.4053T>C
XR_921912.1:n.4058T>C
NM_003126.3:c.3940T>C NP_003117.2:p.Ser1314Pro
XM_011509916.2:c.3940T>C XP_011508218.1:p.Ser1314Pro
XM_011509917.3:c.3940T>C XP_011508219.1:p.Ser1314Pro
XM_011509918.3:c.3940T>C XP_011508220.1:p.Ser1314Pro
XM_011509919.3:c.3940T>C XP_011508221.1:p.Ser1314Pro
XR_921911.3:n.4066T>C
XR_921912.2:n.4068T>C
NM_003126.4:c.3940T>C MANE Select NP_003117.2:p.Ser1314Pro
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