Canonical Allele Identifier: CA5020760

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs778115773
• ExAC: 9:32551015 A / G
• gnomAD v2: 9-32551015-A-G
• gnomAD v4: 9-32551017-A-G
• MyVariant Identifiers: chr9:g.32551015A>G (hg19) ; chr9:g.32551017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551017A>G , CM000671.2:g.32551017A>G	GRCh38
NC_000009.11:g.32551015A>G , CM000671.1:g.32551015A>G	GRCh37
NC_000009.10:g.32541015A>G	NCBI36
NG_017050.1:g.6608T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-49T>C (TOPORS) MANE Select	ENSP00000353735.2:n.4-49T>C
ENST00000680198.1:c.4-49T>C	ENSP00000505143.1:n.4-49T>C
ENST00000681750.1:c.-239-49T>C	ENSP00000506413.1:n.-239-49T>C
ENST00000360538.6:c.4-49T>C (TOPORS)	ENSP00000353735.2:n.4-49T>C
ENST00000379858.1:c.3+1417T>C (TOPORS)	ENSP00000369187.1:n.3+1417T>C
NM_001195622.1:c.3+1417T>C (TOPORS)	NP_001182551.1:n.3+1417T>C
NM_005802.4:c.4-49T>C (TOPORS)	NP_005793.2:n.4-49T>C
XM_024447368.1:c.24A>G (SMIM27)	XP_024303136.1:p.Arg8=
NM_005802.5:c.4-49T>C (TOPORS) MANE Select	NP_005793.2:n.4-49T>C
NM_001195622.2:c.3+1417T>C (TOPORS)	NP_001182551.1:n.3+1417T>C