Canonical Allele Identifier: CA343026759

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158685251-G-C
• COSMIC: COSM6122018
• MyVariant Identifiers: chr1:g.158655041G>C (hg19) ; chr1:g.158685251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685251G>C , CM000663.2:g.158685251G>C	GRCh38
NC_000001.10:g.158655041G>C , CM000663.1:g.158655041G>C	GRCh37
NC_000001.9:g.156921665G>C	NCBI36
NG_011474.1:g.6466C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.121C>G MANE Select	ENSP00000495214.1:p.Arg41Gly
ENST00000368147.8:c.121C>G	ENSP00000357129.4:p.Arg41Gly
ENST00000467387.1:c.121C>G	ENSP00000476485.1:p.Arg41Gly
ENST00000614909.4:c.121C>G	ENSP00000482595.1:p.Arg41Gly
NM_003126.2:c.121C>G	NP_003117.2:p.Arg41Gly
XM_011509916.1:c.121C>G	XP_011508218.1:p.Arg41Gly
XM_011509917.1:c.121C>G	XP_011508219.1:p.Arg41Gly
XM_011509918.1:c.121C>G	XP_011508220.1:p.Arg41Gly
XM_011509919.1:c.121C>G	XP_011508221.1:p.Arg41Gly
XR_921911.1:n.234C>G
XR_921912.1:n.239C>G
NM_003126.3:c.121C>G	NP_003117.2:p.Arg41Gly
XM_011509916.2:c.121C>G	XP_011508218.1:p.Arg41Gly
XM_011509917.3:c.121C>G	XP_011508219.1:p.Arg41Gly
XM_011509918.3:c.121C>G	XP_011508220.1:p.Arg41Gly
XM_011509919.3:c.121C>G	XP_011508221.1:p.Arg41Gly
XR_921911.3:n.247C>G
XR_921912.2:n.249C>G
NM_003126.4:c.121C>G MANE Select	NP_003117.2:p.Arg41Gly