Canonical Allele Identifier: CA343020628

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158650428A>G (hg19) ; chr1:g.158680638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158680638A>G , CM000663.2:g.158680638A>G	GRCh38
NC_000001.10:g.158650428A>G , CM000663.1:g.158650428A>G	GRCh37
NC_000001.9:g.156917052A>G	NCBI36
NG_011474.1:g.11079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.623T>C MANE Select	ENSP00000495214.1:p.Val208Ala
ENST00000368147.8:c.623T>C	ENSP00000357129.4:p.Val208Ala
ENST00000467387.1:c.133-2104T>C	ENSP00000476485.1:n.133-2104T>C
ENST00000614909.4:c.623T>C	ENSP00000482595.1:p.Val208Ala
NM_003126.2:c.623T>C	NP_003117.2:p.Val208Ala
XM_011509916.1:c.623T>C	XP_011508218.1:p.Val208Ala
XM_011509917.1:c.623T>C	XP_011508219.1:p.Val208Ala
XM_011509918.1:c.623T>C	XP_011508220.1:p.Val208Ala
XM_011509919.1:c.623T>C	XP_011508221.1:p.Val208Ala
XR_921911.1:n.736T>C
XR_921912.1:n.741T>C
NM_003126.3:c.623T>C	NP_003117.2:p.Val208Ala
XM_011509916.2:c.623T>C	XP_011508218.1:p.Val208Ala
XM_011509917.3:c.623T>C	XP_011508219.1:p.Val208Ala
XM_011509918.3:c.623T>C	XP_011508220.1:p.Val208Ala
XM_011509919.3:c.623T>C	XP_011508221.1:p.Val208Ala
XR_921911.3:n.749T>C
XR_921912.2:n.751T>C
NM_003126.4:c.623T>C MANE Select	NP_003117.2:p.Val208Ala