Canonical Allele Identifier: CA421301268

Gene: SPTA1

Linked Data

• dbSNP Id: rs2101957879
• COSMIC: COSM424256
• MyVariant Identifiers: chr1:g.158654937G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685147G>A , CM000663.2:g.158685147G>A	GRCh38
NC_000001.10:g.158654937G>A , CM000663.1:g.158654937G>A	GRCh37
NC_000001.9:g.156921561G>A	NCBI36
NG_011474.1:g.6570C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.225C>T MANE Select	ENSP00000495214.1:p.Ile75=
ENST00000368147.8:c.225C>T	ENSP00000357129.4:p.Ile75=
ENST00000467387.1:c.132+93C>T	ENSP00000476485.1:n.132+93C>T
ENST00000614909.4:c.225C>T	ENSP00000482595.1:p.Ile75=
NM_003126.2:c.225C>T	NP_003117.2:p.Ile75=
XM_011509916.1:c.225C>T	XP_011508218.1:p.Ile75=
XM_011509917.1:c.225C>T	XP_011508219.1:p.Ile75=
XM_011509918.1:c.225C>T	XP_011508220.1:p.Ile75=
XM_011509919.1:c.225C>T	XP_011508221.1:p.Ile75=
XR_921911.1:n.338C>T
XR_921912.1:n.343C>T
NM_003126.3:c.225C>T	NP_003117.2:p.Ile75=
XM_011509916.2:c.225C>T	XP_011508218.1:p.Ile75=
XM_011509917.3:c.225C>T	XP_011508219.1:p.Ile75=
XM_011509918.3:c.225C>T	XP_011508220.1:p.Ile75=
XM_011509919.3:c.225C>T	XP_011508221.1:p.Ile75=
XR_921911.3:n.351C>T
XR_921912.2:n.353C>T
NM_003126.4:c.225C>T MANE Select	NP_003117.2:p.Ile75=