Canonical Allele Identifier: CA1981839948

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106180G= , CM000673.2:g.72106180G=	GRCh38
NC_000011.9:g.71817226G= , CM000673.1:g.71817226G=	GRCh37
NC_000011.8:g.71494874G=	NCBI36
NG_021423.1:g.30845G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.229G= (TOMT) MANE Select	ENSP00000494667.1:p.Glu77=
ENST00000541899.2:c.229G= (TOMT)	ENSP00000494667.1:p.Glu77=
ENST00000643715.1:c.438-2425G= (LRTOMT)	ENSP00000496019.1:n.438-2425G=
ENST00000646163.1:c.*47G= (LRTOMT)	ENSP00000494749.1:n.*47G=
ENST00000307198.11:c.328G= (LRRC51)	ENSP00000305742.7:p.Glu110=
ENST00000419228.2:c.208G= (LRRC51)	ENSP00000392233.2:p.Glu70=
ENST00000427369.6:c.*47G= (LRRC51)	ENSP00000409403.2:n.*47G=
ENST00000435085.5:c.328G= (LRRC51)	ENSP00000409789.1:p.Glu110=
ENST00000439209.5:c.438-2425G= (LRRC51)	ENSP00000395139.1:n.438-2425G=
ENST00000541899.1:n.386G= (LRRC51)
ENST00000544409.5:c.*47G= (LRRC51)	ENSP00000440969.1:n.*47G=
NM_001145308.4:c.328G= (LRTOMT)	NP_001138780.1:p.Glu110=
NM_001145309.3:c.328G= (LRTOMT)	NP_001138781.1:p.Glu110=
NM_001145310.3:c.208G= (LRTOMT)	NP_001138782.1:p.Glu70=
XM_011544849.1:c.553G= (LRTOMT)	XP_011543151.1:p.Glu185=
XM_024448401.1:c.553G= (LRTOMT)	XP_024304169.1:p.Glu185=
NM_001145308.5:c.328G= (LRTOMT)	NP_001138780.1:p.Glu110=
NM_001145309.4:c.328G= (LRTOMT)	NP_001138781.1:p.Glu110=
NM_001145310.4:c.208G= (LRTOMT)	NP_001138782.1:p.Glu70=
NM_001393500.1:c.229G= (TOMT)	NP_001380429.1:p.Glu77=
NM_001393500.2:c.229G= (TOMT) MANE Select	NP_001380429.1:p.Glu77=