Canonical Allele Identifier: CA1182588

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158642437A>C , CM000663.2:g.158642437A>C	GRCh38
NC_000001.10:g.158612227A>C , CM000663.1:g.158612227A>C	GRCh37
NC_000001.9:g.156878851A>C	NCBI36
NG_011474.1:g.49280T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.4711T>G MANE Select	ENSP00000495214.1:p.Cys1571Gly
ENST00000368147.8:c.4711T>G	ENSP00000357129.4:p.Cys1571Gly
ENST00000465741.1:n.96T>G
ENST00000614909.4:c.4711T>G	ENSP00000482595.1:p.Cys1571Gly
NM_003126.2:c.4711T>G	NP_003117.2:p.Cys1571Gly
XM_011509916.1:c.4711T>G	XP_011508218.1:p.Cys1571Gly
XM_011509917.1:c.4711T>G	XP_011508219.1:p.Cys1571Gly
XM_011509918.1:c.4711T>G	XP_011508220.1:p.Cys1571Gly
XM_011509919.1:c.4711T>G	XP_011508221.1:p.Cys1571Gly
XR_921911.1:n.4824T>G
XR_921912.1:n.4899T>G
NM_003126.3:c.4711T>G	NP_003117.2:p.Cys1571Gly
XM_011509916.2:c.4711T>G	XP_011508218.1:p.Cys1571Gly
XM_011509917.3:c.4711T>G	XP_011508219.1:p.Cys1571Gly
XM_011509918.3:c.4711T>G	XP_011508220.1:p.Cys1571Gly
XM_011509919.3:c.4711T>G	XP_011508221.1:p.Cys1571Gly
XR_921911.3:n.4837T>G
XR_921912.2:n.4909T>G
NM_003126.4:c.4711T>G MANE Select	NP_003117.2:p.Cys1571Gly