Canonical Allele Identifier: CA122762

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 12859
• ClinVar RCV Id: RCV000013717 ; RCV000345657 ; RCV000404574 ; RCV001508911 ; RCV004017236
• dbSNP Id: rs7418956
• ExAC: 1:158632583 G / T
• gnomAD v2: 1-158632583-G-T
• gnomAD v3: 1-158662793-G-T
• gnomAD v4: 1-158662793-G-T
• MyVariant Identifiers: chr1:g.158632583G>T (hg19) ; chr1:g.158662793G>T (hg38)
• PubMed: PMID:1638030 ; PMID:15071791

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158662793G>T , CM000663.2:g.158662793G>T	GRCh38
NC_000001.10:g.158632583G>T , CM000663.1:g.158632583G>T	GRCh37
NC_000001.9:g.156899207G>T	NCBI36
NG_011474.1:g.28924C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.2373C>A MANE Select	ENSP00000495214.1:p.Asp791Glu
ENST00000368147.8:c.2373C>A	ENSP00000357129.4:p.Asp791Glu
ENST00000614909.4:c.2373C>A	ENSP00000482595.1:p.Asp791Glu
NM_003126.2:c.2373C>A	NP_003117.2:p.Asp791Glu
XM_011509916.1:c.2373C>A	XP_011508218.1:p.Asp791Glu
XM_011509917.1:c.2373C>A	XP_011508219.1:p.Asp791Glu
XM_011509918.1:c.2373C>A	XP_011508220.1:p.Asp791Glu
XM_011509919.1:c.2373C>A	XP_011508221.1:p.Asp791Glu
XR_921911.1:n.2486C>A
XR_921912.1:n.2491C>A
NM_003126.3:c.2373C>A	NP_003117.2:p.Asp791Glu
XM_011509916.2:c.2373C>A	XP_011508218.1:p.Asp791Glu
XM_011509917.3:c.2373C>A	XP_011508219.1:p.Asp791Glu
XM_011509918.3:c.2373C>A	XP_011508220.1:p.Asp791Glu
XM_011509919.3:c.2373C>A	XP_011508221.1:p.Asp791Glu
XR_921911.3:n.2499C>A
XR_921912.2:n.2501C>A
NM_003126.4:c.2373C>A MANE Select	NP_003117.2:p.Asp791Glu