Canonical Allele Identifier: CA1844699283
Gene: TOPORS HGNC NCBI
SMIM27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32551220T= , CM000671.2:g.32551220T= GRCh38
NC_000009.11:g.32551218T= , CM000671.1:g.32551218T= GRCh37
NC_000009.10:g.32541218T= NCBI36
NG_017050.1:g.6405A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.4-252A= (TOPORS) MANE Select ENSP00000353735.2:n.4-252A=
ENST00000453396.5:n.77T= (SMIM27)
ENST00000680198.1:c.4-252A= ENSP00000505143.1:n.4-252A=
ENST00000681750.1:c.-240+145A= ENSP00000506413.1:n.-240+145A=
ENST00000360538.6:c.4-252A= (TOPORS) ENSP00000353735.2:n.4-252A=
ENST00000379858.1:c.3+1214A= (TOPORS) ENSP00000369187.1:n.3+1214A=
NM_001195622.1:c.3+1214A= (TOPORS) NP_001182551.1:n.3+1214A=
NM_005802.4:c.4-252A= (TOPORS) NP_005793.2:n.4-252A=
NR_033991.1:n.77T= (SMIM27)
NM_001349118.1:c.-675T= (SMIM27) NP_001336047.1:n.-675T=
XM_024447368.1:c.205+22T= (SMIM27) XP_024303136.1:n.205+22T=
NM_005802.5:c.4-252A= (TOPORS) MANE Select NP_005793.2:n.4-252A=
NM_001195622.2:c.3+1214A= (TOPORS) NP_001182551.1:n.3+1214A=