Canonical Allele Identifier: CA343011345

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 618386
• ClinVar RCV Id: RCV000756696
• dbSNP Id: rs1557917325
• gnomAD v4: 1-158612879-C-T
• MyVariant Identifiers: chr1:g.158582669C>T (hg19) ; chr1:g.158612879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612879C>T , CM000663.2:g.158612879C>T	GRCh38
NC_000001.10:g.158582669C>T , CM000663.1:g.158582669C>T	GRCh37
NC_000001.9:g.156849293C>T	NCBI36
NG_011474.1:g.78838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7072G>A MANE Select	ENSP00000495214.1:p.Glu2358Lys
ENST00000368147.8:c.7072G>A	ENSP00000357129.4:p.Glu2358Lys
ENST00000481212.5:n.513G>A
ENST00000498708.1:n.504G>A
ENST00000614909.4:c.7072G>A	ENSP00000482595.1:p.Glu2358Lys
NM_003126.2:c.7072G>A	NP_003117.2:p.Glu2358Lys
XM_011509916.1:c.7072G>A	XP_011508218.1:p.Glu2358Lys
XM_011509917.1:c.7054G>A	XP_011508219.1:p.Glu2352Lys
NM_003126.3:c.7072G>A	NP_003117.2:p.Glu2358Lys
XM_011509916.2:c.7072G>A	XP_011508218.1:p.Glu2358Lys
XM_011509917.3:c.7054G>A	XP_011508219.1:p.Glu2352Lys
NM_003126.4:c.7072G>A MANE Select	NP_003117.2:p.Glu2358Lys