Canonical Allele Identifier: CA343011416

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612889-A-C
• MyVariant Identifiers: chr1:g.158582679A>C (hg19) ; chr1:g.158612889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612889A>C , CM000663.2:g.158612889A>C	GRCh38
NC_000001.10:g.158582679A>C , CM000663.1:g.158582679A>C	GRCh37
NC_000001.9:g.156849303A>C	NCBI36
NG_011474.1:g.78828T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7062T>G MANE Select	ENSP00000495214.1:p.Ser2354Arg
ENST00000368147.8:c.7062T>G	ENSP00000357129.4:p.Ser2354Arg
ENST00000481212.5:n.503T>G
ENST00000498708.1:n.494T>G
ENST00000614909.4:c.7062T>G	ENSP00000482595.1:p.Ser2354Arg
NM_003126.2:c.7062T>G	NP_003117.2:p.Ser2354Arg
XM_011509916.1:c.7062T>G	XP_011508218.1:p.Ser2354Arg
XM_011509917.1:c.7044T>G	XP_011508219.1:p.Ser2348Arg
NM_003126.3:c.7062T>G	NP_003117.2:p.Ser2354Arg
XM_011509916.2:c.7062T>G	XP_011508218.1:p.Ser2354Arg
XM_011509917.3:c.7044T>G	XP_011508219.1:p.Ser2348Arg
NM_003126.4:c.7062T>G MANE Select	NP_003117.2:p.Ser2354Arg