Canonical Allele Identifier: CA1844698674

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1279542468
• gnomAD v4: 9-32551033-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551033C>A , CM000671.2:g.32551033C>A	GRCh38
NC_000009.11:g.32551031C>A , CM000671.1:g.32551031C>A	GRCh37
NC_000009.10:g.32541031C>A	NCBI36
NG_017050.1:g.6592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-65G>T (TOPORS) MANE Select	ENSP00000353735.2:n.4-65G>T
ENST00000680198.1:c.4-65G>T	ENSP00000505143.1:n.4-65G>T
ENST00000681750.1:c.-239-65G>T	ENSP00000506413.1:n.-239-65G>T
ENST00000360538.6:c.4-65G>T (TOPORS)	ENSP00000353735.2:n.4-65G>T
ENST00000379858.1:c.3+1401G>T (TOPORS)	ENSP00000369187.1:n.3+1401G>T
NM_001195622.1:c.3+1401G>T (TOPORS)	NP_001182551.1:n.3+1401G>T
NM_005802.4:c.4-65G>T (TOPORS)	NP_005793.2:n.4-65G>T
XM_024447368.1:c.40C>A (SMIM27)	XP_024303136.1:p.Pro14Thr
NM_005802.5:c.4-65G>T (TOPORS) MANE Select	NP_005793.2:n.4-65G>T
NM_001195622.2:c.3+1401G>T (TOPORS)	NP_001182551.1:n.3+1401G>T