Canonical Allele Identifier: CA1182285

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158634651T>C , CM000663.2:g.158634651T>C	GRCh38
NC_000001.10:g.158604441T>C , CM000663.1:g.158604441T>C	GRCh37
NC_000001.9:g.156871065T>C	NCBI36
NG_011474.1:g.57066A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.5457A>G MANE Select	NP_003117.2:p.Leu1819=
ENST00000643759.2:c.5457A>G MANE Select	ENSP00000495214.1:p.Leu1819=
NM_003126.2:c.5457A>G	NP_003117.2:p.Leu1819=
NM_003126.3:c.5457A>G	NP_003117.2:p.Leu1819=
ENST00000368147.8:c.5457A>G	ENSP00000357129.4:p.Leu1819=
ENST00000461624.1:n.3A>G
ENST00000614909.4:c.5457A>G	ENSP00000482595.1:p.Leu1819=
XM_011509916.1:c.5457A>G	XP_011508218.1:p.Leu1819=
XM_011509916.2:c.5457A>G	XP_011508218.1:p.Leu1819=
XM_011509917.1:c.5457A>G	XP_011508219.1:p.Leu1819=
XM_011509917.3:c.5457A>G	XP_011508219.1:p.Leu1819=
XM_011509918.1:c.5457A>G	XP_011508220.1:p.Leu1819=
XM_011509918.3:c.5457A>G	XP_011508220.1:p.Leu1819=
XR_921911.1:n.5570A>G
XR_921911.3:n.5583A>G