Canonical Allele Identifier: CA192366191

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs538578927
• gnomAD v4: 9-32551183-C-A
• MyVariant Identifiers: chr9:g.32551181C>A (hg19) ; chr9:g.32551183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551183C>A , CM000671.2:g.32551183C>A	GRCh38
NC_000009.11:g.32551181C>A , CM000671.1:g.32551181C>A	GRCh37
NC_000009.10:g.32541181C>A	NCBI36
NG_017050.1:g.6442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-215G>T (TOPORS) MANE Select	ENSP00000353735.2:n.4-215G>T
ENST00000453396.5:n.40C>A (SMIM27)
ENST00000680198.1:c.4-215G>T	ENSP00000505143.1:n.4-215G>T
ENST00000681750.1:c.-240+182G>T	ENSP00000506413.1:n.-240+182G>T
ENST00000360538.6:c.4-215G>T (TOPORS)	ENSP00000353735.2:n.4-215G>T
ENST00000379858.1:c.3+1251G>T (TOPORS)	ENSP00000369187.1:n.3+1251G>T
NM_001195622.1:c.3+1251G>T (TOPORS)	NP_001182551.1:n.3+1251G>T
NM_005802.4:c.4-215G>T (TOPORS)	NP_005793.2:n.4-215G>T
NR_033991.1:n.40C>A (SMIM27)
NM_001349118.1:c.-712C>A (SMIM27)	NP_001336047.1:n.-712C>A
XM_024447368.1:c.190C>A (SMIM27)	XP_024303136.1:p.Pro64Thr
NM_005802.5:c.4-215G>T (TOPORS) MANE Select	NP_005793.2:n.4-215G>T
NM_001195622.2:c.3+1251G>T (TOPORS)	NP_001182551.1:n.3+1251G>T