Canonical Allele Identifier: CA343011053

Gene: SPTA1

Linked Data

• COSMIC: COSM463205
• MyVariant Identifiers: chr1:g.158582607C>A (hg19) ; chr1:g.158612817C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612817C>A , CM000663.2:g.158612817C>A	GRCh38
NC_000001.10:g.158582607C>A , CM000663.1:g.158582607C>A	GRCh37
NC_000001.9:g.156849231C>A	NCBI36
NG_011474.1:g.78900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134G>T MANE Select	ENSP00000495214.1:p.Gln2378His
ENST00000368147.8:c.7134G>T	ENSP00000357129.4:p.Gln2378His
ENST00000481212.5:n.575G>T
ENST00000498708.1:n.566G>T
ENST00000614909.4:c.7134G>T	ENSP00000482595.1:p.Gln2378His
NM_003126.2:c.7134G>T	NP_003117.2:p.Gln2378His
XM_011509916.1:c.7134G>T	XP_011508218.1:p.Gln2378His
XM_011509917.1:c.7116G>T	XP_011508219.1:p.Gln2372His
NM_003126.3:c.7134G>T	NP_003117.2:p.Gln2378His
XM_011509916.2:c.7134G>T	XP_011508218.1:p.Gln2378His
XM_011509917.3:c.7116G>T	XP_011508219.1:p.Gln2372His
NM_003126.4:c.7134G>T MANE Select	NP_003117.2:p.Gln2378His