Canonical Allele Identifier: CA192365647
Gene: TOPORS HGNC NCBI

Linked Data

ClinVar Variation Id: 2119563
ClinVar RCV Id: RCV003033157
dbSNP Id: rs952765710

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550841G>A , CM000671.2:g.32550841G>A GRCh38
NC_000009.11:g.32550839G>A , CM000671.1:g.32550839G>A GRCh37
NC_000009.10:g.32540839G>A NCBI36
NG_017050.1:g.6784C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.131C>T MANE Select ENSP00000353735.2:p.Pro44Leu
ENST00000680198.1:c.131C>T ENSP00000505143.1:p.Pro44Leu
ENST00000681750.1:c.-112C>T ENSP00000506413.1:n.-112C>T
ENST00000360538.6:c.131C>T ENSP00000353735.2:p.Pro44Leu
ENST00000379858.1:c.3+1593C>T ENSP00000369187.1:n.3+1593C>T
NM_001195622.1:c.3+1593C>T NP_001182551.1:n.3+1593C>T
NM_005802.4:c.131C>T NP_005793.2:p.Pro44Leu
NM_005802.5:c.131C>T MANE Select NP_005793.2:p.Pro44Leu
NM_001195622.2:c.3+1593C>T NP_001182551.1:n.3+1593C>T