Canonical Allele Identifier: CA679967804

Gene: TOMT LRTOMT LRRC51

Linked Data

• dbSNP Id: rs1409351653
• gnomAD v3: 11-72105925-C-T
• gnomAD v4: 11-72105925-C-T
• MyVariant Identifiers: chr11:g.71816971C>T (hg19) ; chr11:g.72105925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72105925C>T , CM000673.2:g.72105925C>T	GRCh38
NC_000011.9:g.71816971C>T , CM000673.1:g.71816971C>T	GRCh37
NC_000011.8:g.71494619C>T	NCBI36
NG_021423.1:g.30590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.-27C>T (TOMT) MANE Select	ENSP00000494667.1:n.-27C>T
ENST00000541899.2:c.-27C>T (TOMT)	ENSP00000494667.1:n.-27C>T
ENST00000643715.1:c.438-2680C>T (LRTOMT)	ENSP00000496019.1:n.438-2680C>T
ENST00000646163.1:c.73-131C>T (LRTOMT)	ENSP00000494749.1:n.73-131C>T
ENST00000307198.11:c.84-11C>T (LRRC51)	ENSP00000305742.7:n.84-11C>T
ENST00000419228.2:c.84-131C>T (LRRC51)	ENSP00000392233.2:n.84-131C>T
ENST00000427369.6:c.487-11C>T (LRRC51)	ENSP00000409403.2:n.487-11C>T
ENST00000435085.5:c.84-11C>T (LRRC51)	ENSP00000409789.1:n.84-11C>T
ENST00000439209.5:c.438-2680C>T (LRRC51)	ENSP00000395139.1:n.438-2680C>T
ENST00000541899.1:n.131C>T (LRRC51)
ENST00000544409.5:c.487-131C>T (LRRC51)	ENSP00000440969.1:n.487-131C>T
NM_001145308.4:c.84-11C>T (LRTOMT)	NP_001138780.1:n.84-11C>T
NM_001145309.3:c.84-11C>T (LRTOMT)	NP_001138781.1:n.84-11C>T
NM_001145310.3:c.84-131C>T (LRTOMT)	NP_001138782.1:n.84-131C>T
XM_011544849.1:c.309-11C>T (LRTOMT)	XP_011543151.1:n.309-11C>T
XM_024448401.1:c.309-11C>T (LRTOMT)	XP_024304169.1:n.309-11C>T
NM_001145308.5:c.84-11C>T (LRTOMT)	NP_001138780.1:n.84-11C>T
NM_001145309.4:c.84-11C>T (LRTOMT)	NP_001138781.1:n.84-11C>T
NM_001145310.4:c.84-131C>T (LRTOMT)	NP_001138782.1:n.84-131C>T
NM_001393500.2:c.-27C>T (TOMT) MANE Select	NP_001380429.1:n.-27C>T