Canonical Allele Identifier: CA1184231

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 293057
• ClinVar RCV Id: RCV000266135 ; RCV000323519 ; RCV000380383
• dbSNP Id: rs146993090
• ExAC: 1:158654938 A / G
• gnomAD v2: 1-158654938-A-G
• gnomAD v3: 1-158685148-A-G
• gnomAD v4: 1-158685148-A-G
• MyVariant Identifiers: chr1:g.158654938A>G (hg19) ; chr1:g.158685148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685148A>G , CM000663.2:g.158685148A>G	GRCh38
NC_000001.10:g.158654938A>G , CM000663.1:g.158654938A>G	GRCh37
NC_000001.9:g.156921562A>G	NCBI36
NG_011474.1:g.6569T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.224T>C MANE Select	ENSP00000495214.1:p.Ile75Thr
ENST00000368147.8:c.224T>C	ENSP00000357129.4:p.Ile75Thr
ENST00000467387.1:c.132+92T>C	ENSP00000476485.1:n.132+92T>C
ENST00000614909.4:c.224T>C	ENSP00000482595.1:p.Ile75Thr
NM_003126.2:c.224T>C	NP_003117.2:p.Ile75Thr
XM_011509916.1:c.224T>C	XP_011508218.1:p.Ile75Thr
XM_011509917.1:c.224T>C	XP_011508219.1:p.Ile75Thr
XM_011509918.1:c.224T>C	XP_011508220.1:p.Ile75Thr
XM_011509919.1:c.224T>C	XP_011508221.1:p.Ile75Thr
XR_921911.1:n.337T>C
XR_921912.1:n.342T>C
NM_003126.3:c.224T>C	NP_003117.2:p.Ile75Thr
XM_011509916.2:c.224T>C	XP_011508218.1:p.Ile75Thr
XM_011509917.3:c.224T>C	XP_011508219.1:p.Ile75Thr
XM_011509918.3:c.224T>C	XP_011508220.1:p.Ile75Thr
XM_011509919.3:c.224T>C	XP_011508221.1:p.Ile75Thr
XR_921911.3:n.350T>C
XR_921912.2:n.352T>C
NM_003126.4:c.224T>C MANE Select	NP_003117.2:p.Ile75Thr