Canonical Allele Identifier: CA587565252
Gene: TOPORS HGNC NCBI
SMIM27 HGNC NCBI

Linked Data

dbSNP Id: rs1232569795
gnomAD v2: 9-32550999-C-T
gnomAD v4: 9-32551001-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32551001C>T , CM000671.2:g.32551001C>T GRCh38
NC_000009.11:g.32550999C>T , CM000671.1:g.32550999C>T GRCh37
NC_000009.10:g.32540999C>T NCBI36
NG_017050.1:g.6624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.4-33G>A (TOPORS) MANE Select ENSP00000353735.2:n.4-33G>A
ENST00000680198.1:c.4-33G>A ENSP00000505143.1:n.4-33G>A
ENST00000681750.1:c.-239-33G>A ENSP00000506413.1:n.-239-33G>A
ENST00000360538.6:c.4-33G>A (TOPORS) ENSP00000353735.2:n.4-33G>A
ENST00000379858.1:c.3+1433G>A (TOPORS) ENSP00000369187.1:n.3+1433G>A
NM_001195622.1:c.3+1433G>A (TOPORS) NP_001182551.1:n.3+1433G>A
NM_005802.4:c.4-33G>A (TOPORS) NP_005793.2:n.4-33G>A
XM_024447368.1:c.8C>T (SMIM27) XP_024303136.1:p.Ala3Val
NM_005802.5:c.4-33G>A (TOPORS) MANE Select NP_005793.2:n.4-33G>A
NM_001195622.2:c.3+1433G>A (TOPORS) NP_001182551.1:n.3+1433G>A