Canonical Allele Identifier: CA2614917263

Gene: TOMT LRTOMT LRRC51

Linked Data

• gnomAD v4: 11-72105931-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72105931C>T , CM000673.2:g.72105931C>T	GRCh38
NC_000011.9:g.71816977C>T , CM000673.1:g.71816977C>T	GRCh37
NC_000011.8:g.71494625C>T	NCBI36
NG_021423.1:g.30596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.-21C>T (TOMT) MANE Select	ENSP00000494667.1:n.-21C>T
ENST00000541899.2:c.-21C>T (TOMT)	ENSP00000494667.1:n.-21C>T
ENST00000643715.1:c.438-2674C>T (LRTOMT)	ENSP00000496019.1:n.438-2674C>T
ENST00000646163.1:c.73-125C>T (LRTOMT)	ENSP00000494749.1:n.73-125C>T
ENST00000307198.11:c.84-5C>T (LRRC51)	ENSP00000305742.7:n.84-5C>T
ENST00000419228.2:c.84-125C>T (LRRC51)	ENSP00000392233.2:n.84-125C>T
ENST00000427369.6:c.487-5C>T (LRRC51)	ENSP00000409403.2:n.487-5C>T
ENST00000435085.5:c.84-5C>T (LRRC51)	ENSP00000409789.1:n.84-5C>T
ENST00000439209.5:c.438-2674C>T (LRRC51)	ENSP00000395139.1:n.438-2674C>T
ENST00000541899.1:n.137C>T (LRRC51)
ENST00000544409.5:c.487-125C>T (LRRC51)	ENSP00000440969.1:n.487-125C>T
NM_001145308.4:c.84-5C>T (LRTOMT)	NP_001138780.1:n.84-5C>T
NM_001145309.3:c.84-5C>T (LRTOMT)	NP_001138781.1:n.84-5C>T
NM_001145310.3:c.84-125C>T (LRTOMT)	NP_001138782.1:n.84-125C>T
XM_011544849.1:c.309-5C>T (LRTOMT)	XP_011543151.1:n.309-5C>T
XM_024448401.1:c.309-5C>T (LRTOMT)	XP_024304169.1:n.309-5C>T
NM_001145308.5:c.84-5C>T (LRTOMT)	NP_001138780.1:n.84-5C>T
NM_001145309.4:c.84-5C>T (LRTOMT)	NP_001138781.1:n.84-5C>T
NM_001145310.4:c.84-125C>T (LRTOMT)	NP_001138782.1:n.84-125C>T
NM_001393500.1:c.-21C>T (TOMT)	NP_001380429.1:n.-21C>T
NM_001393500.2:c.-21C>T (TOMT) MANE Select	NP_001380429.1:n.-21C>T