Canonical Allele Identifier: CA376881965

Gene: STOX1

Linked Data

• MyVariant Identifiers: chr10:g.70645399T>A (hg19) ; chr10:g.68885643T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885643T>A , CM000672.2:g.68885643T>A	GRCh38
NC_000010.10:g.70645399T>A , CM000672.1:g.70645399T>A	GRCh37
NC_000010.9:g.70315405T>A	NCBI36
NG_012975.1:g.63106T>A
NG_012975.2:g.63107T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298596.11:c.1847T>A MANE Select	ENSP00000298596.6:p.Val616Glu
ENST00000642869.1:c.2183T>A	ENSP00000494558.1:p.Val728Glu
ENST00000298596.10:c.1847T>A	ENSP00000298596.6:p.Val616Glu
ENST00000399162.2:c.463+3533T>A	ENSP00000382115.2:n.463+3533T>A
ENST00000399165.8:c.663+1184T>A	ENSP00000382118.4:n.663+1184T>A
ENST00000399169.8:c.1847T>A	ENSP00000382121.4:p.Val616Glu
NM_001130159.2:c.663+1184T>A	NP_001123631.1:n.663+1184T>A
NM_001130160.2:c.463+3533T>A	NP_001123632.1:n.463+3533T>A
NM_001130161.2:c.1847T>A	NP_001123633.1:p.Val616Glu
NM_152709.4:c.1847T>A	NP_689922.3:p.Val616Glu
XM_011539454.1:c.1517T>A	XP_011537756.1:p.Val506Glu
XM_011539454.2:c.1517T>A	XP_011537756.1:p.Val506Glu
NM_152709.5:c.1847T>A MANE Select	NP_689922.3:p.Val616Glu
NM_001130161.3:c.1847T>A	NP_001123633.1:p.Val616Glu
NM_001130159.3:c.663+1184T>A	NP_001123631.1:n.663+1184T>A
NM_001130160.3:c.463+3533T>A	NP_001123632.1:n.463+3533T>A
NM_001130161.4:c.1847T>A	NP_001123633.1:p.Val616Glu