Canonical Allele Identifier: CA1184240

Gene: SPTA1

Linked Data

• dbSNP Id: rs539667133
• ExAC: 1:158654979 A / C
• gnomAD v2: 1-158654979-A-C
• gnomAD v3: 1-158685189-A-C
• gnomAD v4: 1-158685189-A-C
• MyVariant Identifiers: chr1:g.158654979A>C (hg19) ; chr1:g.158685189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685189A>C , CM000663.2:g.158685189A>C	GRCh38
NC_000001.10:g.158654979A>C , CM000663.1:g.158654979A>C	GRCh37
NC_000001.9:g.156921603A>C	NCBI36
NG_011474.1:g.6528T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.183T>G MANE Select	ENSP00000495214.1:p.Asp61Glu
ENST00000368147.8:c.183T>G	ENSP00000357129.4:p.Asp61Glu
ENST00000467387.1:c.132+51T>G	ENSP00000476485.1:n.132+51T>G
ENST00000614909.4:c.183T>G	ENSP00000482595.1:p.Asp61Glu
NM_003126.2:c.183T>G	NP_003117.2:p.Asp61Glu
XM_011509916.1:c.183T>G	XP_011508218.1:p.Asp61Glu
XM_011509917.1:c.183T>G	XP_011508219.1:p.Asp61Glu
XM_011509918.1:c.183T>G	XP_011508220.1:p.Asp61Glu
XM_011509919.1:c.183T>G	XP_011508221.1:p.Asp61Glu
XR_921911.1:n.296T>G
XR_921912.1:n.301T>G
NM_003126.3:c.183T>G	NP_003117.2:p.Asp61Glu
XM_011509916.2:c.183T>G	XP_011508218.1:p.Asp61Glu
XM_011509917.3:c.183T>G	XP_011508219.1:p.Asp61Glu
XM_011509918.3:c.183T>G	XP_011508220.1:p.Asp61Glu
XM_011509919.3:c.183T>G	XP_011508221.1:p.Asp61Glu
XR_921911.3:n.309T>G
XR_921912.2:n.311T>G
NM_003126.4:c.183T>G MANE Select	NP_003117.2:p.Asp61Glu