Canonical Allele Identifier: CA863300632

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1417822660
• gnomAD v3: 9-32551124-G-A
• gnomAD v4: 9-32551124-G-A
• MyVariant Identifiers: chr9:g.32551122G>A (hg19) ; chr9:g.32551124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551124G>A , CM000671.2:g.32551124G>A	GRCh38
NC_000009.11:g.32551122G>A , CM000671.1:g.32551122G>A	GRCh37
NC_000009.10:g.32541122G>A	NCBI36
NG_017050.1:g.6501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-156C>T (TOPORS) MANE Select	ENSP00000353735.2:n.4-156C>T
ENST00000680198.1:c.4-156C>T	ENSP00000505143.1:n.4-156C>T
ENST00000681750.1:c.-239-156C>T	ENSP00000506413.1:n.-239-156C>T
ENST00000360538.6:c.4-156C>T (TOPORS)	ENSP00000353735.2:n.4-156C>T
ENST00000379858.1:c.3+1310C>T (TOPORS)	ENSP00000369187.1:n.3+1310C>T
NM_001195622.1:c.3+1310C>T (TOPORS)	NP_001182551.1:n.3+1310C>T
NM_005802.4:c.4-156C>T (TOPORS)	NP_005793.2:n.4-156C>T
XM_024447368.1:c.131G>A (SMIM27)	XP_024303136.1:p.Arg44Gln
NM_005802.5:c.4-156C>T (TOPORS) MANE Select	NP_005793.2:n.4-156C>T
NM_001195622.2:c.3+1310C>T (TOPORS)	NP_001182551.1:n.3+1310C>T