Canonical Allele Identifier: CA1181925

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158617578T>C , CM000663.2:g.158617578T>C	GRCh38
NC_000001.10:g.158587368T>C , CM000663.1:g.158587368T>C	GRCh37
NC_000001.9:g.156853992T>C	NCBI36
NG_011474.1:g.74139A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6559A>G MANE Select	ENSP00000495214.1:p.Lys2187Glu
ENST00000368147.8:c.6559A>G	ENSP00000357129.4:p.Lys2187Glu
ENST00000492934.1:n.74A>G
ENST00000614909.4:c.6559A>G	ENSP00000482595.1:p.Lys2187Glu
NM_003126.2:c.6559A>G	NP_003117.2:p.Lys2187Glu
XM_011509916.1:c.6559A>G	XP_011508218.1:p.Lys2187Glu
XM_011509917.1:c.6541A>G	XP_011508219.1:p.Lys2181Glu
NM_003126.3:c.6559A>G	NP_003117.2:p.Lys2187Glu
XM_011509916.2:c.6559A>G	XP_011508218.1:p.Lys2187Glu
XM_011509917.3:c.6541A>G	XP_011508219.1:p.Lys2181Glu
NM_003126.4:c.6559A>G MANE Select	NP_003117.2:p.Lys2187Glu