Canonical Allele Identifier: CA5020757

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs779811319
• ExAC: 9:32551002 G / T
• gnomAD v2: 9-32551002-G-T
• gnomAD v4: 9-32551004-G-T
• MyVariant Identifiers: chr9:g.32551002G>T (hg19) ; chr9:g.32551004G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551004G>T , CM000671.2:g.32551004G>T	GRCh38
NC_000009.11:g.32551002G>T , CM000671.1:g.32551002G>T	GRCh37
NC_000009.10:g.32541002G>T	NCBI36
NG_017050.1:g.6621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-36C>A (TOPORS) MANE Select	ENSP00000353735.2:n.4-36C>A
ENST00000680198.1:c.4-36C>A	ENSP00000505143.1:n.4-36C>A
ENST00000681750.1:c.-239-36C>A	ENSP00000506413.1:n.-239-36C>A
ENST00000360538.6:c.4-36C>A (TOPORS)	ENSP00000353735.2:n.4-36C>A
ENST00000379858.1:c.3+1430C>A (TOPORS)	ENSP00000369187.1:n.3+1430C>A
NM_001195622.1:c.3+1430C>A (TOPORS)	NP_001182551.1:n.3+1430C>A
NM_005802.4:c.4-36C>A (TOPORS)	NP_005793.2:n.4-36C>A
XM_024447368.1:c.11G>T (SMIM27)	XP_024303136.1:p.Arg4Leu
NM_005802.5:c.4-36C>A (TOPORS) MANE Select	NP_005793.2:n.4-36C>A
NM_001195622.2:c.3+1430C>A (TOPORS)	NP_001182551.1:n.3+1430C>A