Canonical Allele Identifier: CA1122990575
Gene: TOPORS HGNC NCBI
SMIM27 HGNC NCBI

Linked Data

dbSNP Id: rs1417822660
gnomAD v3: 9-32551124-G-T
gnomAD v4: 9-32551124-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32551124G>T , CM000671.2:g.32551124G>T GRCh38
NC_000009.11:g.32551122G>T , CM000671.1:g.32551122G>T GRCh37
NC_000009.10:g.32541122G>T NCBI36
NG_017050.1:g.6501C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.4-156C>A (TOPORS) MANE Select ENSP00000353735.2:n.4-156C>A
ENST00000680198.1:c.4-156C>A ENSP00000505143.1:n.4-156C>A
ENST00000681750.1:c.-239-156C>A ENSP00000506413.1:n.-239-156C>A
ENST00000360538.6:c.4-156C>A (TOPORS) ENSP00000353735.2:n.4-156C>A
ENST00000379858.1:c.3+1310C>A (TOPORS) ENSP00000369187.1:n.3+1310C>A
NM_001195622.1:c.3+1310C>A (TOPORS) NP_001182551.1:n.3+1310C>A
NM_005802.4:c.4-156C>A (TOPORS) NP_005793.2:n.4-156C>A
XM_024447368.1:c.131G>T (SMIM27) XP_024303136.1:p.Arg44Leu
NM_005802.5:c.4-156C>A (TOPORS) MANE Select NP_005793.2:n.4-156C>A
NM_001195622.2:c.3+1310C>A (TOPORS) NP_001182551.1:n.3+1310C>A
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