Canonical Allele Identifier: CA1182938

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158647693G>A , CM000663.2:g.158647693G>A	GRCh38
NC_000001.10:g.158617483G>A , CM000663.1:g.158617483G>A	GRCh37
NC_000001.9:g.156884107G>A	NCBI36
NG_011474.1:g.44024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.3742C>T MANE Select	ENSP00000495214.1:p.Arg1248Trp
ENST00000368147.8:c.3742C>T	ENSP00000357129.4:p.Arg1248Trp
ENST00000614909.4:c.3742C>T	ENSP00000482595.1:p.Arg1248Trp
NM_003126.2:c.3742C>T	NP_003117.2:p.Arg1248Trp
XM_011509916.1:c.3742C>T	XP_011508218.1:p.Arg1248Trp
XM_011509917.1:c.3742C>T	XP_011508219.1:p.Arg1248Trp
XM_011509918.1:c.3742C>T	XP_011508220.1:p.Arg1248Trp
XM_011509919.1:c.3742C>T	XP_011508221.1:p.Arg1248Trp
XR_921911.1:n.3855C>T
XR_921912.1:n.3860C>T
NM_003126.3:c.3742C>T	NP_003117.2:p.Arg1248Trp
XM_011509916.2:c.3742C>T	XP_011508218.1:p.Arg1248Trp
XM_011509917.3:c.3742C>T	XP_011508219.1:p.Arg1248Trp
XM_011509918.3:c.3742C>T	XP_011508220.1:p.Arg1248Trp
XM_011509919.3:c.3742C>T	XP_011508221.1:p.Arg1248Trp
XR_921911.3:n.3868C>T
XR_921912.2:n.3870C>T
NM_003126.4:c.3742C>T MANE Select	NP_003117.2:p.Arg1248Trp