Canonical Allele Identifier: CA2689683682

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs2118982422
• gnomAD v4: 9-32551139-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551139C>G , CM000671.2:g.32551139C>G	GRCh38
NC_000009.11:g.32551137C>G , CM000671.1:g.32551137C>G	GRCh37
NC_000009.10:g.32541137C>G	NCBI36
NG_017050.1:g.6486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-171G>C (TOPORS) MANE Select	ENSP00000353735.2:n.4-171G>C
ENST00000680198.1:c.4-171G>C	ENSP00000505143.1:n.4-171G>C
ENST00000681750.1:c.-239-171G>C	ENSP00000506413.1:n.-239-171G>C
ENST00000360538.6:c.4-171G>C (TOPORS)	ENSP00000353735.2:n.4-171G>C
ENST00000379858.1:c.3+1295G>C (TOPORS)	ENSP00000369187.1:n.3+1295G>C
NM_001195622.1:c.3+1295G>C (TOPORS)	NP_001182551.1:n.3+1295G>C
NM_005802.4:c.4-171G>C (TOPORS)	NP_005793.2:n.4-171G>C
XM_024447368.1:c.146C>G (SMIM27)	XP_024303136.1:p.Pro49Arg
NM_005802.5:c.4-171G>C (TOPORS) MANE Select	NP_005793.2:n.4-171G>C
NM_001195622.2:c.3+1295G>C (TOPORS)	NP_001182551.1:n.3+1295G>C