Canonical Allele Identifier: CA192366183
Gene: TOPORS HGNC NCBI
SMIM27 HGNC NCBI

Linked Data

dbSNP Id: rs376302243
gnomAD v2: 9-32551167-G-A
gnomAD v3: 9-32551169-G-A
gnomAD v4: 9-32551169-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32551169G>A , CM000671.2:g.32551169G>A GRCh38
NC_000009.11:g.32551167G>A , CM000671.1:g.32551167G>A GRCh37
NC_000009.10:g.32541167G>A NCBI36
NG_017050.1:g.6456C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.4-201C>T (TOPORS) MANE Select ENSP00000353735.2:n.4-201C>T
ENST00000453396.5:n.26G>A (SMIM27)
ENST00000680198.1:c.4-201C>T ENSP00000505143.1:n.4-201C>T
ENST00000681750.1:c.-240+196C>T ENSP00000506413.1:n.-240+196C>T
ENST00000360538.6:c.4-201C>T (TOPORS) ENSP00000353735.2:n.4-201C>T
ENST00000379858.1:c.3+1265C>T (TOPORS) ENSP00000369187.1:n.3+1265C>T
NM_001195622.1:c.3+1265C>T (TOPORS) NP_001182551.1:n.3+1265C>T
NM_005802.4:c.4-201C>T (TOPORS) NP_005793.2:n.4-201C>T
NR_033991.1:n.26G>A (SMIM27)
NM_001349118.1:c.-726G>A (SMIM27) NP_001336047.1:n.-726G>A
XM_024447368.1:c.176G>A (SMIM27) XP_024303136.1:p.Gly59Glu
NM_005802.5:c.4-201C>T (TOPORS) MANE Select NP_005793.2:n.4-201C>T
NM_001195622.2:c.3+1265C>T (TOPORS) NP_001182551.1:n.3+1265C>T