Canonical Allele Identifier: CA192366202

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs986481525
• gnomAD v3: 9-32551196-C-G
• gnomAD v4: 9-32551196-C-G
• MyVariant Identifiers: chr9:g.32551194C>G (hg19) ; chr9:g.32551196C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551196C>G , CM000671.2:g.32551196C>G	GRCh38
NC_000009.11:g.32551194C>G , CM000671.1:g.32551194C>G	GRCh37
NC_000009.10:g.32541194C>G	NCBI36
NG_017050.1:g.6429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-228G>C (TOPORS) MANE Select	ENSP00000353735.2:n.4-228G>C
ENST00000453396.5:n.53C>G (SMIM27)
ENST00000680198.1:c.4-228G>C	ENSP00000505143.1:n.4-228G>C
ENST00000681750.1:c.-240+169G>C	ENSP00000506413.1:n.-240+169G>C
ENST00000360538.6:c.4-228G>C (TOPORS)	ENSP00000353735.2:n.4-228G>C
ENST00000379858.1:c.3+1238G>C (TOPORS)	ENSP00000369187.1:n.3+1238G>C
NM_001195622.1:c.3+1238G>C (TOPORS)	NP_001182551.1:n.3+1238G>C
NM_005802.4:c.4-228G>C (TOPORS)	NP_005793.2:n.4-228G>C
NR_033991.1:n.53C>G (SMIM27)
NM_001349118.1:c.-699C>G (SMIM27)	NP_001336047.1:n.-699C>G
XM_024447368.1:c.203C>G (SMIM27)	XP_024303136.1:p.Thr68Ser
NM_005802.5:c.4-228G>C (TOPORS) MANE Select	NP_005793.2:n.4-228G>C
NM_001195622.2:c.3+1238G>C (TOPORS)	NP_001182551.1:n.3+1238G>C