Canonical Allele Identifier: CA1981839872

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106027T= , CM000673.2:g.72106027T=	GRCh38
NC_000011.9:g.71817073T= , CM000673.1:g.71817073T=	GRCh37
NC_000011.8:g.71494721T=	NCBI36
NG_021423.1:g.30692T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.76T= (TOMT) MANE Select	ENSP00000494667.1:p.Leu26=
ENST00000541899.2:c.76T= (TOMT)	ENSP00000494667.1:p.Leu26=
ENST00000643715.1:c.438-2578T= (LRTOMT)	ENSP00000496019.1:n.438-2578T=
ENST00000646163.1:c.73-29T= (LRTOMT)	ENSP00000494749.1:n.73-29T=
ENST00000307198.11:c.175T= (LRRC51)	ENSP00000305742.7:p.Leu59=
ENST00000419228.2:c.84-29T= (LRRC51)	ENSP00000392233.2:n.84-29T=
ENST00000427369.6:c.578T= (LRRC51)	ENSP00000409403.2:p.Ile193=
ENST00000435085.5:c.175T= (LRRC51)	ENSP00000409789.1:p.Leu59=
ENST00000439209.5:c.438-2578T= (LRRC51)	ENSP00000395139.1:n.438-2578T=
ENST00000541899.1:n.233T= (LRRC51)
ENST00000544409.5:c.487-29T= (LRRC51)	ENSP00000440969.1:n.487-29T=
NM_001145308.4:c.175T= (LRTOMT)	NP_001138780.1:p.Leu59=
NM_001145309.3:c.175T= (LRTOMT)	NP_001138781.1:p.Leu59=
NM_001145310.3:c.84-29T= (LRTOMT)	NP_001138782.1:n.84-29T=
XM_011544849.1:c.400T= (LRTOMT)	XP_011543151.1:p.Leu134=
XM_024448401.1:c.400T= (LRTOMT)	XP_024304169.1:p.Leu134=
NM_001145308.5:c.175T= (LRTOMT)	NP_001138780.1:p.Leu59=
NM_001145309.4:c.175T= (LRTOMT)	NP_001138781.1:p.Leu59=
NM_001145310.4:c.84-29T= (LRTOMT)	NP_001138782.1:n.84-29T=
NM_001393500.1:c.76T= (TOMT)	NP_001380429.1:p.Leu26=
NM_001393500.2:c.76T= (TOMT) MANE Select	NP_001380429.1:p.Leu26=