Canonical Allele Identifier: CA464295459

Gene: TOPORS SMIM27

Linked Data

• MyVariant Identifiers: chr9:g.32551170A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551172A>C , CM000671.2:g.32551172A>C	GRCh38
NC_000009.11:g.32551170A>C , CM000671.1:g.32551170A>C	GRCh37
NC_000009.10:g.32541170A>C	NCBI36
NG_017050.1:g.6453T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-204T>G (TOPORS) MANE Select	ENSP00000353735.2:n.4-204T>G
ENST00000453396.5:n.29A>C (SMIM27)
ENST00000680198.1:c.4-204T>G	ENSP00000505143.1:n.4-204T>G
ENST00000681750.1:c.-240+193T>G	ENSP00000506413.1:n.-240+193T>G
ENST00000360538.6:c.4-204T>G (TOPORS)	ENSP00000353735.2:n.4-204T>G
ENST00000379858.1:c.3+1262T>G (TOPORS)	ENSP00000369187.1:n.3+1262T>G
NM_001195622.1:c.3+1262T>G (TOPORS)	NP_001182551.1:n.3+1262T>G
NM_005802.4:c.4-204T>G (TOPORS)	NP_005793.2:n.4-204T>G
NR_033991.1:n.29A>C (SMIM27)
NM_001349118.1:c.-723A>C (SMIM27)	NP_001336047.1:n.-723A>C
XM_024447368.1:c.179A>C (SMIM27)	XP_024303136.1:p.Gln60Pro
NM_005802.5:c.4-204T>G (TOPORS) MANE Select	NP_005793.2:n.4-204T>G
NM_001195622.2:c.3+1262T>G (TOPORS)	NP_001182551.1:n.3+1262T>G