Canonical Allele Identifier: CA1844698989

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551132T= , CM000671.2:g.32551132T=	GRCh38
NC_000009.11:g.32551130T= , CM000671.1:g.32551130T=	GRCh37
NC_000009.10:g.32541130T=	NCBI36
NG_017050.1:g.6493A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-164A= (TOPORS) MANE Select	ENSP00000353735.2:n.4-164A=
ENST00000680198.1:c.4-164A=	ENSP00000505143.1:n.4-164A=
ENST00000681750.1:c.-239-164A=	ENSP00000506413.1:n.-239-164A=
ENST00000360538.6:c.4-164A= (TOPORS)	ENSP00000353735.2:n.4-164A=
ENST00000379858.1:c.3+1302A= (TOPORS)	ENSP00000369187.1:n.3+1302A=
NM_001195622.1:c.3+1302A= (TOPORS)	NP_001182551.1:n.3+1302A=
NM_005802.4:c.4-164A= (TOPORS)	NP_005793.2:n.4-164A=
XM_024447368.1:c.139T= (SMIM27)	XP_024303136.1:p.Cys47=
NM_005802.5:c.4-164A= (TOPORS) MANE Select	NP_005793.2:n.4-164A=
NM_001195622.2:c.3+1302A= (TOPORS)	NP_001182551.1:n.3+1302A=