Canonical Allele Identifier: CA376881841

Gene: STOX1

Linked Data

• dbSNP Id: rs1245198469
• gnomAD v3: 10-68885591-C-T
• gnomAD v4: 10-68885591-C-T
• MyVariant Identifiers: chr10:g.70645347C>T (hg19) ; chr10:g.68885591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885591C>T , CM000672.2:g.68885591C>T	GRCh38
NC_000010.10:g.70645347C>T , CM000672.1:g.70645347C>T	GRCh37
NC_000010.9:g.70315353C>T	NCBI36
NG_012975.1:g.63054C>T
NG_012975.2:g.63055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298596.11:c.1795C>T MANE Select	ENSP00000298596.6:p.Pro599Ser
ENST00000642869.1:c.2131C>T	ENSP00000494558.1:p.Pro711Ser
ENST00000298596.10:c.1795C>T	ENSP00000298596.6:p.Pro599Ser
ENST00000399162.2:c.463+3481C>T	ENSP00000382115.2:n.463+3481C>T
ENST00000399165.8:c.663+1132C>T	ENSP00000382118.4:n.663+1132C>T
ENST00000399169.8:c.1795C>T	ENSP00000382121.4:p.Pro599Ser
NM_001130159.2:c.663+1132C>T	NP_001123631.1:n.663+1132C>T
NM_001130160.2:c.463+3481C>T	NP_001123632.1:n.463+3481C>T
NM_001130161.2:c.1795C>T	NP_001123633.1:p.Pro599Ser
NM_152709.4:c.1795C>T	NP_689922.3:p.Pro599Ser
XM_011539454.1:c.1465C>T	XP_011537756.1:p.Pro489Ser
XM_011539454.2:c.1465C>T	XP_011537756.1:p.Pro489Ser
NM_152709.5:c.1795C>T MANE Select	NP_689922.3:p.Pro599Ser
NM_001130161.3:c.1795C>T	NP_001123633.1:p.Pro599Ser
NM_001130159.3:c.663+1132C>T	NP_001123631.1:n.663+1132C>T
NM_001130160.3:c.463+3481C>T	NP_001123632.1:n.463+3481C>T
NM_001130161.4:c.1795C>T	NP_001123633.1:p.Pro599Ser