Canonical Allele Identifier: CA1844699278
Gene: TOPORS HGNC NCBI
SMIM27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32551219C= , CM000671.2:g.32551219C= GRCh38
NC_000009.11:g.32551217C= , CM000671.1:g.32551217C= GRCh37
NC_000009.10:g.32541217C= NCBI36
NG_017050.1:g.6406G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.4-251G= (TOPORS) MANE Select ENSP00000353735.2:n.4-251G=
ENST00000453396.5:n.76C= (SMIM27)
ENST00000680198.1:c.4-251G= ENSP00000505143.1:n.4-251G=
ENST00000681750.1:c.-240+146G= ENSP00000506413.1:n.-240+146G=
ENST00000360538.6:c.4-251G= (TOPORS) ENSP00000353735.2:n.4-251G=
ENST00000379858.1:c.3+1215G= (TOPORS) ENSP00000369187.1:n.3+1215G=
NM_001195622.1:c.3+1215G= (TOPORS) NP_001182551.1:n.3+1215G=
NM_005802.4:c.4-251G= (TOPORS) NP_005793.2:n.4-251G=
NR_033991.1:n.76C= (SMIM27)
NM_001349118.1:c.-676C= (SMIM27) NP_001336047.1:n.-676C=
XM_024447368.1:c.205+21C= (SMIM27) XP_024303136.1:n.205+21C=
NM_005802.5:c.4-251G= (TOPORS) MANE Select NP_005793.2:n.4-251G=
NM_001195622.2:c.3+1215G= (TOPORS) NP_001182551.1:n.3+1215G=