Canonical Allele Identifier: CA1182254

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292968
• ClinVar RCV Id: RCV000298769 ; RCV000355930 ; RCV000399669 ; RCV003765705
• dbSNP Id: rs140863916
• ExAC: 1:158597523 T / C
• gnomAD v2: 1-158597523-T-C
• gnomAD v3: 1-158627733-T-C
• gnomAD v4: 1-158627733-T-C
• MyVariant Identifiers: chr1:g.158597523T>C (hg19) ; chr1:g.158627733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158627733T>C , CM000663.2:g.158627733T>C	GRCh38
NC_000001.10:g.158597523T>C , CM000663.1:g.158597523T>C	GRCh37
NC_000001.9:g.156864147T>C	NCBI36
NG_011474.1:g.63984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5566-10A>G MANE Select	ENSP00000495214.1:n.5566-10A>G
ENST00000368147.8:c.5566-10A>G	ENSP00000357129.4:n.5566-10A>G
ENST00000461624.1:n.112-10A>G
ENST00000614909.4:c.5566-10A>G	ENSP00000482595.1:n.5566-10A>G
NM_003126.2:c.5566-10A>G	NP_003117.2:n.5566-10A>G
XM_011509916.1:c.5566-10A>G	XP_011508218.1:n.5566-10A>G
XM_011509917.1:c.5566-10A>G	XP_011508219.1:n.5566-10A>G
XM_011509918.1:c.5566-10A>G	XP_011508220.1:n.5566-10A>G
XR_921911.1:n.5679-1511A>G
NM_003126.3:c.5566-10A>G	NP_003117.2:n.5566-10A>G
XM_011509916.2:c.5566-10A>G	XP_011508218.1:n.5566-10A>G
XM_011509917.3:c.5566-10A>G	XP_011508219.1:n.5566-10A>G
XM_011509918.3:c.5566-10A>G	XP_011508220.1:n.5566-10A>G
XR_921911.3:n.5692-1511A>G
NM_003126.4:c.5566-10A>G MANE Select	NP_003117.2:n.5566-10A>G