Canonical Allele Identifier: CA376881450
Gene: STOX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68885421T>C , CM000672.2:g.68885421T>C GRCh38
NC_000010.10:g.70645177T>C , CM000672.1:g.70645177T>C GRCh37
NC_000010.9:g.70315183T>C NCBI36
NG_012975.1:g.62884T>C
NG_012975.2:g.62885T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298596.11:c.1625T>C MANE Select ENSP00000298596.6:p.Ile542Thr
ENST00000642869.1:c.1961T>C ENSP00000494558.1:p.Ile654Thr
ENST00000298596.10:c.1625T>C ENSP00000298596.6:p.Ile542Thr
ENST00000399162.2:c.463+3311T>C ENSP00000382115.2:n.463+3311T>C
ENST00000399165.8:c.663+962T>C ENSP00000382118.4:n.663+962T>C
ENST00000399169.8:c.1625T>C ENSP00000382121.4:p.Ile542Thr
NM_001130159.2:c.663+962T>C NP_001123631.1:n.663+962T>C
NM_001130160.2:c.463+3311T>C NP_001123632.1:n.463+3311T>C
NM_001130161.2:c.1625T>C NP_001123633.1:p.Ile542Thr
NM_152709.4:c.1625T>C NP_689922.3:p.Ile542Thr
XM_011539454.1:c.1295T>C XP_011537756.1:p.Ile432Thr
XM_011539454.2:c.1295T>C XP_011537756.1:p.Ile432Thr
NM_152709.5:c.1625T>C MANE Select NP_689922.3:p.Ile542Thr
NM_001130161.3:c.1625T>C NP_001123633.1:p.Ile542Thr
NM_001130159.3:c.663+962T>C NP_001123631.1:n.663+962T>C
NM_001130160.3:c.463+3311T>C NP_001123632.1:n.463+3311T>C
NM_001130161.4:c.1625T>C NP_001123633.1:p.Ile542Thr