Canonical Allele Identifier: CA2689683591

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551051-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551051A>C , CM000671.2:g.32551051A>C	GRCh38
NC_000009.11:g.32551049A>C , CM000671.1:g.32551049A>C	GRCh37
NC_000009.10:g.32541049A>C	NCBI36
NG_017050.1:g.6574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-83T>G (TOPORS) MANE Select	ENSP00000353735.2:n.4-83T>G
ENST00000680198.1:c.4-83T>G	ENSP00000505143.1:n.4-83T>G
ENST00000681750.1:c.-239-83T>G	ENSP00000506413.1:n.-239-83T>G
ENST00000360538.6:c.4-83T>G (TOPORS)	ENSP00000353735.2:n.4-83T>G
ENST00000379858.1:c.3+1383T>G (TOPORS)	ENSP00000369187.1:n.3+1383T>G
NM_001195622.1:c.3+1383T>G (TOPORS)	NP_001182551.1:n.3+1383T>G
NM_005802.4:c.4-83T>G (TOPORS)	NP_005793.2:n.4-83T>G
XM_024447368.1:c.58A>C (SMIM27)	XP_024303136.1:p.Lys20Gln
NM_005802.5:c.4-83T>G (TOPORS) MANE Select	NP_005793.2:n.4-83T>G
NM_001195622.2:c.3+1383T>G (TOPORS)	NP_001182551.1:n.3+1383T>G