Canonical Allele Identifier: CA1981839963

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106204G= , CM000673.2:g.72106204G=	GRCh38
NC_000011.9:g.71817250G= , CM000673.1:g.71817250G=	GRCh37
NC_000011.8:g.71494898G=	NCBI36
NG_021423.1:g.30869G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.253G= (TOMT) MANE Select	ENSP00000494667.1:p.Val85=
ENST00000541899.2:c.253G= (TOMT)	ENSP00000494667.1:p.Val85=
ENST00000643715.1:c.438-2401G= (LRTOMT)	ENSP00000496019.1:n.438-2401G=
ENST00000646163.1:c.*71G= (LRTOMT)	ENSP00000494749.1:n.*71G=
ENST00000307198.11:c.352G= (LRRC51)	ENSP00000305742.7:p.Val118=
ENST00000419228.2:c.232G= (LRRC51)	ENSP00000392233.2:p.Val78=
ENST00000427369.6:c.*71G= (LRRC51)	ENSP00000409403.2:n.*71G=
ENST00000435085.5:c.352G= (LRRC51)	ENSP00000409789.1:p.Val118=
ENST00000439209.5:c.438-2401G= (LRRC51)	ENSP00000395139.1:n.438-2401G=
ENST00000541899.1:n.410G= (LRRC51)
ENST00000544409.5:c.*71G= (LRRC51)	ENSP00000440969.1:n.*71G=
NM_001145308.4:c.352G= (LRTOMT)	NP_001138780.1:p.Val118=
NM_001145309.3:c.352G= (LRTOMT)	NP_001138781.1:p.Val118=
NM_001145310.3:c.232G= (LRTOMT)	NP_001138782.1:p.Val78=
XM_011544849.1:c.577G= (LRTOMT)	XP_011543151.1:p.Val193=
XM_024448401.1:c.577G= (LRTOMT)	XP_024304169.1:p.Val193=
NM_001145308.5:c.352G= (LRTOMT)	NP_001138780.1:p.Val118=
NM_001145309.4:c.352G= (LRTOMT)	NP_001138781.1:p.Val118=
NM_001145310.4:c.232G= (LRTOMT)	NP_001138782.1:p.Val78=
NM_001393500.1:c.253G= (TOMT)	NP_001380429.1:p.Val85=
NM_001393500.2:c.253G= (TOMT) MANE Select	NP_001380429.1:p.Val85=