Canonical Allele Identifier: CA1122990565

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1291498685
• gnomAD v3: 9-32551110-G-C
• gnomAD v4: 9-32551110-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551110G>C , CM000671.2:g.32551110G>C	GRCh38
NC_000009.11:g.32551108G>C , CM000671.1:g.32551108G>C	GRCh37
NC_000009.10:g.32541108G>C	NCBI36
NG_017050.1:g.6515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-142C>G (TOPORS) MANE Select	ENSP00000353735.2:n.4-142C>G
ENST00000680198.1:c.4-142C>G	ENSP00000505143.1:n.4-142C>G
ENST00000681750.1:c.-239-142C>G	ENSP00000506413.1:n.-239-142C>G
ENST00000360538.6:c.4-142C>G (TOPORS)	ENSP00000353735.2:n.4-142C>G
ENST00000379858.1:c.3+1324C>G (TOPORS)	ENSP00000369187.1:n.3+1324C>G
NM_001195622.1:c.3+1324C>G (TOPORS)	NP_001182551.1:n.3+1324C>G
NM_005802.4:c.4-142C>G (TOPORS)	NP_005793.2:n.4-142C>G
XM_024447368.1:c.117G>C (SMIM27)	XP_024303136.1:p.Arg39=
NM_005802.5:c.4-142C>G (TOPORS) MANE Select	NP_005793.2:n.4-142C>G
NM_001195622.2:c.3+1324C>G (TOPORS)	NP_001182551.1:n.3+1324C>G