Canonical Allele Identifier: CA1184224

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 293056
• ClinVar RCV Id: RCV000262252 ; RCV000301081 ; RCV000358555 ; RCV002519403
• dbSNP Id: rs369988146
• ExAC: 1:158654919 A / G
• gnomAD v2: 1-158654919-A-G
• gnomAD v3: 1-158685129-A-G
• gnomAD v4: 1-158685129-A-G
• MyVariant Identifiers: chr1:g.158654919A>G (hg19) ; chr1:g.158685129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685129A>G , CM000663.2:g.158685129A>G	GRCh38
NC_000001.10:g.158654919A>G , CM000663.1:g.158654919A>G	GRCh37
NC_000001.9:g.156921543A>G	NCBI36
NG_011474.1:g.6588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.243T>C MANE Select	ENSP00000495214.1:p.Tyr81=
ENST00000368147.8:c.243T>C	ENSP00000357129.4:p.Tyr81=
ENST00000467387.1:c.132+111T>C	ENSP00000476485.1:n.132+111T>C
ENST00000614909.4:c.243T>C	ENSP00000482595.1:p.Tyr81=
NM_003126.2:c.243T>C	NP_003117.2:p.Tyr81=
XM_011509916.1:c.243T>C	XP_011508218.1:p.Tyr81=
XM_011509917.1:c.243T>C	XP_011508219.1:p.Tyr81=
XM_011509918.1:c.243T>C	XP_011508220.1:p.Tyr81=
XM_011509919.1:c.243T>C	XP_011508221.1:p.Tyr81=
XR_921911.1:n.356T>C
XR_921912.1:n.361T>C
NM_003126.3:c.243T>C	NP_003117.2:p.Tyr81=
XM_011509916.2:c.243T>C	XP_011508218.1:p.Tyr81=
XM_011509917.3:c.243T>C	XP_011508219.1:p.Tyr81=
XM_011509918.3:c.243T>C	XP_011508220.1:p.Tyr81=
XM_011509919.3:c.243T>C	XP_011508221.1:p.Tyr81=
XR_921911.3:n.369T>C
XR_921912.2:n.371T>C
NM_003126.4:c.243T>C MANE Select	NP_003117.2:p.Tyr81=