Canonical Allele Identifier: CA376881725
Gene: STOX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68885541T>A , CM000672.2:g.68885541T>A GRCh38
NC_000010.10:g.70645297T>A , CM000672.1:g.70645297T>A GRCh37
NC_000010.9:g.70315303T>A NCBI36
NG_012975.1:g.63004T>A
NG_012975.2:g.63005T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298596.11:c.1745T>A MANE Select ENSP00000298596.6:p.Leu582His
ENST00000642869.1:c.2081T>A ENSP00000494558.1:p.Leu694His
ENST00000298596.10:c.1745T>A ENSP00000298596.6:p.Leu582His
ENST00000399162.2:c.463+3431T>A ENSP00000382115.2:n.463+3431T>A
ENST00000399165.8:c.663+1082T>A ENSP00000382118.4:n.663+1082T>A
ENST00000399169.8:c.1745T>A ENSP00000382121.4:p.Leu582His
NM_001130159.2:c.663+1082T>A NP_001123631.1:n.663+1082T>A
NM_001130160.2:c.463+3431T>A NP_001123632.1:n.463+3431T>A
NM_001130161.2:c.1745T>A NP_001123633.1:p.Leu582His
NM_152709.4:c.1745T>A NP_689922.3:p.Leu582His
XM_011539454.1:c.1415T>A XP_011537756.1:p.Leu472His
XM_011539454.2:c.1415T>A XP_011537756.1:p.Leu472His
NM_152709.5:c.1745T>A MANE Select NP_689922.3:p.Leu582His
NM_001130161.3:c.1745T>A NP_001123633.1:p.Leu582His
NM_001130159.3:c.663+1082T>A NP_001123631.1:n.663+1082T>A
NM_001130160.3:c.463+3431T>A NP_001123632.1:n.463+3431T>A
NM_001130161.4:c.1745T>A NP_001123633.1:p.Leu582His