Canonical Allele Identifier: CA343026738

Gene: SPTA1

Linked Data

• COSMIC: COSM4910742
• MyVariant Identifiers: chr1:g.158655029T>C (hg19) ; chr1:g.158685239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685239T>C , CM000663.2:g.158685239T>C	GRCh38
NC_000001.10:g.158655029T>C , CM000663.1:g.158655029T>C	GRCh37
NC_000001.9:g.156921653T>C	NCBI36
NG_011474.1:g.6478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.133A>G MANE Select	ENSP00000495214.1:p.Arg45Gly
ENST00000368147.8:c.133A>G	ENSP00000357129.4:p.Arg45Gly
ENST00000467387.1:c.132+1A>G	ENSP00000476485.1:n.132+1A>G
ENST00000614909.4:c.133A>G	ENSP00000482595.1:p.Arg45Gly
NM_003126.2:c.133A>G	NP_003117.2:p.Arg45Gly
XM_011509916.1:c.133A>G	XP_011508218.1:p.Arg45Gly
XM_011509917.1:c.133A>G	XP_011508219.1:p.Arg45Gly
XM_011509918.1:c.133A>G	XP_011508220.1:p.Arg45Gly
XM_011509919.1:c.133A>G	XP_011508221.1:p.Arg45Gly
XR_921911.1:n.246A>G
XR_921912.1:n.251A>G
NM_003126.3:c.133A>G	NP_003117.2:p.Arg45Gly
XM_011509916.2:c.133A>G	XP_011508218.1:p.Arg45Gly
XM_011509917.3:c.133A>G	XP_011508219.1:p.Arg45Gly
XM_011509918.3:c.133A>G	XP_011508220.1:p.Arg45Gly
XM_011509919.3:c.133A>G	XP_011508221.1:p.Arg45Gly
XR_921911.3:n.259A>G
XR_921912.2:n.261A>G
NM_003126.4:c.133A>G MANE Select	NP_003117.2:p.Arg45Gly