Canonical Allele Identifier: CA115164
Gene: STOX1 HGNC NCBI
COSMIC:
COSM3751904 (not active)
MyVariant.info:
GRCh38 chr10:g.68882104T>C
GRCh37 chr10:g.70641860T>C
Revel Score:
ENST00000399169 0.352
ENST00000298596 (MANE Select) 0.352
ENST00000399165 0.352
ENST00000399162 0.352
ENST00000421961 0.352
gnomAD v2:
10:70641860 T / C
gnomAD v3:
10:68882104 T / C
gnomAD v4:
chr10-68882104-T-C
Joint Max Group AF 0.84068868 (EAS)
Genomes Max Group AF 0.86803713 (EAS)
Exomes Max Group AF 0.83481758 (EAS)
ClinVar RCV:
RCV000001789
ClinVar Variation:
1719
dbSNP:
1341667
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68882104T>C , CM000672.2:g.68882104T>C GRCh38
NC_000010.10:g.70641860T>C , CM000672.1:g.70641860T>C GRCh37
NC_000010.9:g.70311866T>C NCBI36
NG_012975.1:g.59567T>C
NG_012975.2:g.59568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298596.11:c.457T>C MANE Select ENSP00000298596.6:p.Tyr153His
ENST00000642869.1:c.793T>C ENSP00000494558.1:p.Tyr265His
ENST00000298596.10:c.457T>C ENSP00000298596.6:p.Tyr153His
ENST00000399162.2:c.457T>C ENSP00000382115.2:p.Tyr153His
ENST00000399165.8:c.457T>C ENSP00000382118.4:p.Tyr153His
ENST00000399169.8:c.457T>C ENSP00000382121.4:p.Tyr153His
NM_001130159.2:c.457T>C NP_001123631.1:p.Tyr153His
NM_001130160.2:c.457T>C NP_001123632.1:p.Tyr153His
NM_001130161.2:c.457T>C NP_001123633.1:p.Tyr153His
NM_152709.4:c.457T>C NP_689922.3:p.Tyr153His
XM_011539454.1:c.127T>C XP_011537756.1:p.Tyr43His
XM_011539454.2:c.127T>C XP_011537756.1:p.Tyr43His
NM_152709.5:c.457T>C MANE Select NP_689922.3:p.Tyr153His
NM_001130161.3:c.457T>C NP_001123633.1:p.Tyr153His
NM_001130159.3:c.457T>C NP_001123631.1:p.Tyr153His
NM_001130160.3:c.457T>C NP_001123632.1:p.Tyr153His
NM_001130161.4:c.457T>C NP_001123633.1:p.Tyr153His
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