Canonical Allele Identifier: CA421301423

Gene: SPTA1

Linked Data

• MyVariant Identifiers: chr1:g.158654991A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685201A>G , CM000663.2:g.158685201A>G	GRCh38
NC_000001.10:g.158654991A>G , CM000663.1:g.158654991A>G	GRCh37
NC_000001.9:g.156921615A>G	NCBI36
NG_011474.1:g.6516T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.171T>C MANE Select	ENSP00000495214.1:p.Val57=
ENST00000368147.8:c.171T>C	ENSP00000357129.4:p.Val57=
ENST00000467387.1:c.132+39T>C	ENSP00000476485.1:n.132+39T>C
ENST00000614909.4:c.171T>C	ENSP00000482595.1:p.Val57=
NM_003126.2:c.171T>C	NP_003117.2:p.Val57=
XM_011509916.1:c.171T>C	XP_011508218.1:p.Val57=
XM_011509917.1:c.171T>C	XP_011508219.1:p.Val57=
XM_011509918.1:c.171T>C	XP_011508220.1:p.Val57=
XM_011509919.1:c.171T>C	XP_011508221.1:p.Val57=
XR_921911.1:n.284T>C
XR_921912.1:n.289T>C
NM_003126.3:c.171T>C	NP_003117.2:p.Val57=
XM_011509916.2:c.171T>C	XP_011508218.1:p.Val57=
XM_011509917.3:c.171T>C	XP_011508219.1:p.Val57=
XM_011509918.3:c.171T>C	XP_011508220.1:p.Val57=
XM_011509919.3:c.171T>C	XP_011508221.1:p.Val57=
XR_921911.3:n.297T>C
XR_921912.2:n.299T>C
NM_003126.4:c.171T>C MANE Select	NP_003117.2:p.Val57=