Canonical Allele Identifier: CA1182881

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292988
• ClinVar RCV Id: RCV000263247 ; RCV000331062 ; RCV000367083 ; RCV001248300
• dbSNP Id: rs200308788
• ExAC: 1:158615341 A / G
• gnomAD v2: 1-158615341-A-G
• gnomAD v3: 1-158645551-A-G
• gnomAD v4: 1-158645551-A-G
• MyVariant Identifiers: chr1:g.158615341A>G (hg19) ; chr1:g.158645551A>G (hg38)

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