Canonical Allele Identifier: CA192366154

Gene: TOPORS SMIM27

Linked Data

• ClinVar Variation Id: 2659140
• ClinVar RCV Id: RCV003425647
• dbSNP Id: rs549299723
• gnomAD v2: 9-32551159-C-A
• gnomAD v3: 9-32551161-C-A
• gnomAD v4: 9-32551161-C-A
• MyVariant Identifiers: chr9:g.32551159C>A (hg19) ; chr9:g.32551161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551161C>A , CM000671.2:g.32551161C>A	GRCh38
NC_000009.11:g.32551159C>A , CM000671.1:g.32551159C>A	GRCh37
NC_000009.10:g.32541159C>A	NCBI36
NG_017050.1:g.6464G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-193G>T (TOPORS) MANE Select	ENSP00000353735.2:n.4-193G>T
ENST00000453396.5:n.18C>A (SMIM27)
ENST00000680198.1:c.4-193G>T	ENSP00000505143.1:n.4-193G>T
ENST00000681750.1:c.-239-193G>T	ENSP00000506413.1:n.-239-193G>T
ENST00000360538.6:c.4-193G>T (TOPORS)	ENSP00000353735.2:n.4-193G>T
ENST00000379858.1:c.3+1273G>T (TOPORS)	ENSP00000369187.1:n.3+1273G>T
NM_001195622.1:c.3+1273G>T (TOPORS)	NP_001182551.1:n.3+1273G>T
NM_005802.4:c.4-193G>T (TOPORS)	NP_005793.2:n.4-193G>T
NR_033991.1:n.18C>A (SMIM27)
NM_001349118.1:c.-734C>A (SMIM27)	NP_001336047.1:n.-734C>A
XM_024447368.1:c.168C>A (SMIM27)	XP_024303136.1:p.Pro56=
NM_005802.5:c.4-193G>T (TOPORS) MANE Select	NP_005793.2:n.4-193G>T
NM_001195622.2:c.3+1273G>T (TOPORS)	NP_001182551.1:n.3+1273G>T