Canonical Allele Identifier: CA1981839936

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106157T= , CM000673.2:g.72106157T=	GRCh38
NC_000011.9:g.71817203T= , CM000673.1:g.71817203T=	GRCh37
NC_000011.8:g.71494851T=	NCBI36
NG_021423.1:g.30822T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.206T= (TOMT) MANE Select	ENSP00000494667.1:p.Leu69=
ENST00000541899.2:c.206T= (TOMT)	ENSP00000494667.1:p.Leu69=
ENST00000643715.1:c.438-2448T= (LRTOMT)	ENSP00000496019.1:n.438-2448T=
ENST00000646163.1:c.*24T= (LRTOMT)	ENSP00000494749.1:n.*24T=
ENST00000307198.11:c.305T= (LRRC51)	ENSP00000305742.7:p.Leu102=
ENST00000419228.2:c.185T= (LRRC51)	ENSP00000392233.2:p.Leu62=
ENST00000427369.6:c.*24T= (LRRC51)	ENSP00000409403.2:n.*24T=
ENST00000435085.5:c.305T= (LRRC51)	ENSP00000409789.1:p.Leu102=
ENST00000439209.5:c.438-2448T= (LRRC51)	ENSP00000395139.1:n.438-2448T=
ENST00000541899.1:n.363T= (LRRC51)
ENST00000544409.5:c.*24T= (LRRC51)	ENSP00000440969.1:n.*24T=
NM_001145308.4:c.305T= (LRTOMT)	NP_001138780.1:p.Leu102=
NM_001145309.3:c.305T= (LRTOMT)	NP_001138781.1:p.Leu102=
NM_001145310.3:c.185T= (LRTOMT)	NP_001138782.1:p.Leu62=
XM_011544849.1:c.530T= (LRTOMT)	XP_011543151.1:p.Leu177=
XM_024448401.1:c.530T= (LRTOMT)	XP_024304169.1:p.Leu177=
NM_001145308.5:c.305T= (LRTOMT)	NP_001138780.1:p.Leu102=
NM_001145309.4:c.305T= (LRTOMT)	NP_001138781.1:p.Leu102=
NM_001145310.4:c.185T= (LRTOMT)	NP_001138782.1:p.Leu62=
NM_001393500.1:c.206T= (TOMT)	NP_001380429.1:p.Leu69=
NM_001393500.2:c.206T= (TOMT) MANE Select	NP_001380429.1:p.Leu69=