Canonical Allele Identifier: CA1183050

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 258928
• ClinVar RCV Id: RCV000246583 ; RCV000271973 ; RCV000329462 ; RCV000378108 ; RCV002519915
• dbSNP Id: rs369904982
• ExAC: 1:158621142 G / A
• gnomAD v2: 1-158621142-G-A
• gnomAD v3: 1-158651352-G-A
• gnomAD v4: 1-158651352-G-A
• MyVariant Identifiers: chr1:g.158621142G>A (hg19) ; chr1:g.158651352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158651352G>A , CM000663.2:g.158651352G>A	GRCh38
NC_000001.10:g.158621142G>A , CM000663.1:g.158621142G>A	GRCh37
NC_000001.9:g.156887766G>A	NCBI36
NG_011474.1:g.40365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.3477+15C>T MANE Select	ENSP00000495214.1:n.3477+15C>T
ENST00000368147.8:c.3477+15C>T	ENSP00000357129.4:n.3477+15C>T
ENST00000614909.4:c.3477+15C>T	ENSP00000482595.1:n.3477+15C>T
NM_003126.2:c.3477+15C>T	NP_003117.2:n.3477+15C>T
XM_011509916.1:c.3477+15C>T	XP_011508218.1:n.3477+15C>T
XM_011509917.1:c.3477+15C>T	XP_011508219.1:n.3477+15C>T
XM_011509918.1:c.3477+15C>T	XP_011508220.1:n.3477+15C>T
XM_011509919.1:c.3477+15C>T	XP_011508221.1:n.3477+15C>T
XR_921911.1:n.3590+15C>T
XR_921912.1:n.3595+15C>T
NM_003126.3:c.3477+15C>T	NP_003117.2:n.3477+15C>T
XM_011509916.2:c.3477+15C>T	XP_011508218.1:n.3477+15C>T
XM_011509917.3:c.3477+15C>T	XP_011508219.1:n.3477+15C>T
XM_011509918.3:c.3477+15C>T	XP_011508220.1:n.3477+15C>T
XM_011509919.3:c.3477+15C>T	XP_011508221.1:n.3477+15C>T
XR_921911.3:n.3603+15C>T
XR_921912.2:n.3605+15C>T
NM_003126.4:c.3477+15C>T MANE Select	NP_003117.2:n.3477+15C>T