Canonical Allele Identifier: CA1181732

Gene: SPTA1

Linked Data

• dbSNP Id: rs761063050
• ExAC: 1:158582647 G / A
• gnomAD v2: 1-158582647-G-A
• gnomAD v4: 1-158612857-G-A
• MyVariant Identifiers: chr1:g.158582647G>A (hg19) ; chr1:g.158612857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612857G>A , CM000663.2:g.158612857G>A	GRCh38
NC_000001.10:g.158582647G>A , CM000663.1:g.158582647G>A	GRCh37
NC_000001.9:g.156849271G>A	NCBI36
NG_011474.1:g.78860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7094C>T MANE Select	ENSP00000495214.1:p.Ala2365Val
ENST00000368147.8:c.7094C>T	ENSP00000357129.4:p.Ala2365Val
ENST00000481212.5:n.535C>T
ENST00000498708.1:n.526C>T
ENST00000614909.4:c.7094C>T	ENSP00000482595.1:p.Ala2365Val
NM_003126.2:c.7094C>T	NP_003117.2:p.Ala2365Val
XM_011509916.1:c.7094C>T	XP_011508218.1:p.Ala2365Val
XM_011509917.1:c.7076C>T	XP_011508219.1:p.Ala2359Val
NM_003126.3:c.7094C>T	NP_003117.2:p.Ala2365Val
XM_011509916.2:c.7094C>T	XP_011508218.1:p.Ala2365Val
XM_011509917.3:c.7076C>T	XP_011508219.1:p.Ala2359Val
NM_003126.4:c.7094C>T MANE Select	NP_003117.2:p.Ala2365Val