Canonical Allele Identifier: CA1182251

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 258948
• ClinVar RCV Id: RCV000247499 ; RCV000304497 ; RCV000361633 ; RCV000395775 ; RCV001003794 ; RCV001731550
• dbSNP Id: rs3737515
• ExAC: 1:158597507 G / C
• gnomAD v2: 1-158597507-G-C
• gnomAD v3: 1-158627717-G-C
• gnomAD v4: 1-158627717-G-C
• MyVariant Identifiers: chr1:g.158597507G>C (hg19) ; chr1:g.158627717G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158627717G>C , CM000663.2:g.158627717G>C	GRCh38
NC_000001.10:g.158597507G>C , CM000663.1:g.158597507G>C	GRCh37
NC_000001.9:g.156864131G>C	NCBI36
NG_011474.1:g.64000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5572C>G MANE Select	ENSP00000495214.1:p.Leu1858Val
ENST00000368147.8:c.5572C>G	ENSP00000357129.4:p.Leu1858Val
ENST00000461624.1:n.118C>G
ENST00000614909.4:c.5572C>G	ENSP00000482595.1:p.Leu1858Val
NM_003126.2:c.5572C>G	NP_003117.2:p.Leu1858Val
XM_011509916.1:c.5572C>G	XP_011508218.1:p.Leu1858Val
XM_011509917.1:c.5572C>G	XP_011508219.1:p.Leu1858Val
XM_011509918.1:c.5572C>G	XP_011508220.1:p.Leu1858Val
XR_921911.1:n.5679-1495C>G
NM_003126.3:c.5572C>G	NP_003117.2:p.Leu1858Val
XM_011509916.2:c.5572C>G	XP_011508218.1:p.Leu1858Val
XM_011509917.3:c.5572C>G	XP_011508219.1:p.Leu1858Val
XM_011509918.3:c.5572C>G	XP_011508220.1:p.Leu1858Val
XR_921911.3:n.5692-1495C>G
NM_003126.4:c.5572C>G MANE Select	NP_003117.2:p.Leu1858Val