Canonical Allele Identifier: CA1844698612

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551026C= , CM000671.2:g.32551026C=	GRCh38
NC_000009.11:g.32551024C= , CM000671.1:g.32551024C=	GRCh37
NC_000009.10:g.32541024C=	NCBI36
NG_017050.1:g.6599G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-58G= (TOPORS) MANE Select	ENSP00000353735.2:n.4-58G=
ENST00000680198.1:c.4-58G=	ENSP00000505143.1:n.4-58G=
ENST00000681750.1:c.-239-58G=	ENSP00000506413.1:n.-239-58G=
ENST00000360538.6:c.4-58G= (TOPORS)	ENSP00000353735.2:n.4-58G=
ENST00000379858.1:c.3+1408G= (TOPORS)	ENSP00000369187.1:n.3+1408G=
NM_001195622.1:c.3+1408G= (TOPORS)	NP_001182551.1:n.3+1408G=
NM_005802.4:c.4-58G= (TOPORS)	NP_005793.2:n.4-58G=
XM_024447368.1:c.33C= (SMIM27)	XP_024303136.1:p.Asp11=
NM_005802.5:c.4-58G= (TOPORS) MANE Select	NP_005793.2:n.4-58G=
NM_001195622.2:c.3+1408G= (TOPORS)	NP_001182551.1:n.3+1408G=