Canonical Allele Identifier: CA1844699137

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551181C= , CM000671.2:g.32551181C=	GRCh38
NC_000009.11:g.32551179C= , CM000671.1:g.32551179C=	GRCh37
NC_000009.10:g.32541179C=	NCBI36
NG_017050.1:g.6444G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-213G= (TOPORS) MANE Select	ENSP00000353735.2:n.4-213G=
ENST00000453396.5:n.38C= (SMIM27)
ENST00000680198.1:c.4-213G=	ENSP00000505143.1:n.4-213G=
ENST00000681750.1:c.-240+184G=	ENSP00000506413.1:n.-240+184G=
ENST00000360538.6:c.4-213G= (TOPORS)	ENSP00000353735.2:n.4-213G=
ENST00000379858.1:c.3+1253G= (TOPORS)	ENSP00000369187.1:n.3+1253G=
NM_001195622.1:c.3+1253G= (TOPORS)	NP_001182551.1:n.3+1253G=
NM_005802.4:c.4-213G= (TOPORS)	NP_005793.2:n.4-213G=
NR_033991.1:n.38C= (SMIM27)
NM_001349118.1:c.-714C= (SMIM27)	NP_001336047.1:n.-714C=
XM_024447368.1:c.188C= (SMIM27)	XP_024303136.1:p.Pro63=
NM_005802.5:c.4-213G= (TOPORS) MANE Select	NP_005793.2:n.4-213G=
NM_001195622.2:c.3+1253G= (TOPORS)	NP_001182551.1:n.3+1253G=