Canonical Allele Identifier: CA1182460

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 2960313
• ClinVar RCV Id: RCV003815073
• dbSNP Id: rs546527783
• ExAC: 1:158608043 C / T
• gnomAD v2: 1-158608043-C-T
• gnomAD v3: 1-158638253-C-T
• gnomAD v4: 1-158638253-C-T
• MyVariant Identifiers: chr1:g.158608043C>T (hg19) ; chr1:g.158638253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158638253C>T , CM000663.2:g.158638253C>T	GRCh38
NC_000001.10:g.158608043C>T , CM000663.1:g.158608043C>T	GRCh37
NC_000001.9:g.156874667C>T	NCBI36
NG_011474.1:g.53464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.4981-12G>A MANE Select	ENSP00000495214.1:n.4981-12G>A
ENST00000368147.8:c.4981-12G>A	ENSP00000357129.4:n.4981-12G>A
ENST00000614909.4:c.4981-12G>A	ENSP00000482595.1:n.4981-12G>A
NM_003126.2:c.4981-12G>A	NP_003117.2:n.4981-12G>A
XM_011509916.1:c.4981-12G>A	XP_011508218.1:n.4981-12G>A
XM_011509917.1:c.4981-12G>A	XP_011508219.1:n.4981-12G>A
XM_011509918.1:c.4981-12G>A	XP_011508220.1:n.4981-12G>A
XM_011509919.1:c.4980+1329G>A	XP_011508221.1:n.4980+1329G>A
XR_921911.1:n.5094-12G>A
NM_003126.3:c.4981-12G>A	NP_003117.2:n.4981-12G>A
XM_011509916.2:c.4981-12G>A	XP_011508218.1:n.4981-12G>A
XM_011509917.3:c.4981-12G>A	XP_011508219.1:n.4981-12G>A
XM_011509918.3:c.4981-12G>A	XP_011508220.1:n.4981-12G>A
XM_011509919.3:c.4980+1329G>A	XP_011508221.1:n.4980+1329G>A
XR_921911.3:n.5107-12G>A
NM_003126.4:c.4981-12G>A MANE Select	NP_003117.2:n.4981-12G>A