Canonical Allele Identifier: CA343020590

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158650419T>G (hg19) ; chr1:g.158680629T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158680629T>G , CM000663.2:g.158680629T>G	GRCh38
NC_000001.10:g.158650419T>G , CM000663.1:g.158650419T>G	GRCh37
NC_000001.9:g.156917043T>G	NCBI36
NG_011474.1:g.11088A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.632A>C MANE Select	ENSP00000495214.1:p.Glu211Ala
ENST00000368147.8:c.632A>C	ENSP00000357129.4:p.Glu211Ala
ENST00000467387.1:c.133-2095A>C	ENSP00000476485.1:n.133-2095A>C
ENST00000614909.4:c.632A>C	ENSP00000482595.1:p.Glu211Ala
NM_003126.2:c.632A>C	NP_003117.2:p.Glu211Ala
XM_011509916.1:c.632A>C	XP_011508218.1:p.Glu211Ala
XM_011509917.1:c.632A>C	XP_011508219.1:p.Glu211Ala
XM_011509918.1:c.632A>C	XP_011508220.1:p.Glu211Ala
XM_011509919.1:c.632A>C	XP_011508221.1:p.Glu211Ala
XR_921911.1:n.745A>C
XR_921912.1:n.750A>C
NM_003126.3:c.632A>C	NP_003117.2:p.Glu211Ala
XM_011509916.2:c.632A>C	XP_011508218.1:p.Glu211Ala
XM_011509917.3:c.632A>C	XP_011508219.1:p.Glu211Ala
XM_011509918.3:c.632A>C	XP_011508220.1:p.Glu211Ala
XM_011509919.3:c.632A>C	XP_011508221.1:p.Glu211Ala
XR_921911.3:n.758A>C
XR_921912.2:n.760A>C
NM_003126.4:c.632A>C MANE Select	NP_003117.2:p.Glu211Ala