Canonical Allele Identifier: CA208268328

Gene: STOX1

Linked Data

• ClinVar Variation Id: 2305065
• ClinVar RCV Id: RCV004150932
• dbSNP Id: rs267602556
• MyVariant Identifiers: chr10:g.70645404C>T (hg19) ; chr10:g.68885648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885648C>T , CM000672.2:g.68885648C>T	GRCh38
NC_000010.10:g.70645404C>T , CM000672.1:g.70645404C>T	GRCh37
NC_000010.9:g.70315410C>T	NCBI36
NG_012975.1:g.63111C>T
NG_012975.2:g.63112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298596.11:c.1852C>T MANE Select	ENSP00000298596.6:p.Pro618Ser
ENST00000642869.1:c.2188C>T	ENSP00000494558.1:p.Pro730Ser
ENST00000298596.10:c.1852C>T	ENSP00000298596.6:p.Pro618Ser
ENST00000399162.2:c.463+3538C>T	ENSP00000382115.2:n.463+3538C>T
ENST00000399165.8:c.663+1189C>T	ENSP00000382118.4:n.663+1189C>T
ENST00000399169.8:c.1852C>T	ENSP00000382121.4:p.Pro618Ser
NM_001130159.2:c.663+1189C>T	NP_001123631.1:n.663+1189C>T
NM_001130160.2:c.463+3538C>T	NP_001123632.1:n.463+3538C>T
NM_001130161.2:c.1852C>T	NP_001123633.1:p.Pro618Ser
NM_152709.4:c.1852C>T	NP_689922.3:p.Pro618Ser
XM_011539454.1:c.1522C>T	XP_011537756.1:p.Pro508Ser
XM_011539454.2:c.1522C>T	XP_011537756.1:p.Pro508Ser
NM_152709.5:c.1852C>T MANE Select	NP_689922.3:p.Pro618Ser
NM_001130161.3:c.1852C>T	NP_001123633.1:p.Pro618Ser
NM_001130159.3:c.663+1189C>T	NP_001123631.1:n.663+1189C>T
NM_001130160.3:c.463+3538C>T	NP_001123632.1:n.463+3538C>T
NM_001130161.4:c.1852C>T	NP_001123633.1:p.Pro618Ser