Canonical Allele Identifier: CA1184243

Gene: SPTA1

Linked Data

• dbSNP Id: rs373695294
• ExAC: 1:158654984 G / T
• gnomAD v2: 1-158654984-G-T
• gnomAD v4: 1-158685194-G-T
• MyVariant Identifiers: chr1:g.158654984G>T (hg19) ; chr1:g.158685194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685194G>T , CM000663.2:g.158685194G>T	GRCh38
NC_000001.10:g.158654984G>T , CM000663.1:g.158654984G>T	GRCh37
NC_000001.9:g.156921608G>T	NCBI36
NG_011474.1:g.6523C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.178C>A MANE Select	ENSP00000495214.1:p.Arg60=
ENST00000368147.8:c.178C>A	ENSP00000357129.4:p.Arg60=
ENST00000467387.1:c.132+46C>A	ENSP00000476485.1:n.132+46C>A
ENST00000614909.4:c.178C>A	ENSP00000482595.1:p.Arg60=
NM_003126.2:c.178C>A	NP_003117.2:p.Arg60=
XM_011509916.1:c.178C>A	XP_011508218.1:p.Arg60=
XM_011509917.1:c.178C>A	XP_011508219.1:p.Arg60=
XM_011509918.1:c.178C>A	XP_011508220.1:p.Arg60=
XM_011509919.1:c.178C>A	XP_011508221.1:p.Arg60=
XR_921911.1:n.291C>A
XR_921912.1:n.296C>A
NM_003126.3:c.178C>A	NP_003117.2:p.Arg60=
XM_011509916.2:c.178C>A	XP_011508218.1:p.Arg60=
XM_011509917.3:c.178C>A	XP_011508219.1:p.Arg60=
XM_011509918.3:c.178C>A	XP_011508220.1:p.Arg60=
XM_011509919.3:c.178C>A	XP_011508221.1:p.Arg60=
XR_921911.3:n.304C>A
XR_921912.2:n.306C>A
NM_003126.4:c.178C>A MANE Select	NP_003117.2:p.Arg60=