Canonical Allele Identifier: CA343011366

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 2485884
• ClinVar RCV Id: RCV004277182
• MyVariant Identifiers: chr1:g.158582672T>C (hg19) ; chr1:g.158612882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612882T>C , CM000663.2:g.158612882T>C	GRCh38
NC_000001.10:g.158582672T>C , CM000663.1:g.158582672T>C	GRCh37
NC_000001.9:g.156849296T>C	NCBI36
NG_011474.1:g.78835A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7069A>G MANE Select	ENSP00000495214.1:p.Ile2357Val
ENST00000368147.8:c.7069A>G	ENSP00000357129.4:p.Ile2357Val
ENST00000481212.5:n.510A>G
ENST00000498708.1:n.501A>G
ENST00000614909.4:c.7069A>G	ENSP00000482595.1:p.Ile2357Val
NM_003126.2:c.7069A>G	NP_003117.2:p.Ile2357Val
XM_011509916.1:c.7069A>G	XP_011508218.1:p.Ile2357Val
XM_011509917.1:c.7051A>G	XP_011508219.1:p.Ile2351Val
NM_003126.3:c.7069A>G	NP_003117.2:p.Ile2357Val
XM_011509916.2:c.7069A>G	XP_011508218.1:p.Ile2357Val
XM_011509917.3:c.7051A>G	XP_011508219.1:p.Ile2351Val
NM_003126.4:c.7069A>G MANE Select	NP_003117.2:p.Ile2357Val