Canonical Allele Identifier: CA224374540

Gene: TOMT LRTOMT LRRC51

Linked Data

• dbSNP Id: rs1040602177
• gnomAD v2: 11-71817143-C-T
• gnomAD v4: 11-72106097-C-T
• MyVariant Identifiers: chr11:g.71817143C>T (hg19) ; chr11:g.72106097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106097C>T , CM000673.2:g.72106097C>T	GRCh38
NC_000011.9:g.71817143C>T , CM000673.1:g.71817143C>T	GRCh37
NC_000011.8:g.71494791C>T	NCBI36
NG_021423.1:g.30762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.146C>T (TOMT) MANE Select	ENSP00000494667.1:p.Ala49Val
ENST00000541899.2:c.146C>T (TOMT)	ENSP00000494667.1:p.Ala49Val
ENST00000643715.1:c.438-2508C>T (LRTOMT)	ENSP00000496019.1:n.438-2508C>T
ENST00000646163.1:c.114C>T (LRTOMT)	ENSP00000494749.1:p.Gly38=
ENST00000307198.11:c.245C>T (LRRC51)	ENSP00000305742.7:p.Ala82Val
ENST00000419228.2:c.125C>T (LRRC51)	ENSP00000392233.2:p.Ala42Val
ENST00000427369.6:c.648C>T (LRRC51)	ENSP00000409403.2:p.Gly216=
ENST00000435085.5:c.245C>T (LRRC51)	ENSP00000409789.1:p.Ala82Val
ENST00000439209.5:c.438-2508C>T (LRRC51)	ENSP00000395139.1:n.438-2508C>T
ENST00000541899.1:n.303C>T (LRRC51)
ENST00000544409.5:c.528C>T (LRRC51)	ENSP00000440969.1:p.Gly176=
NM_001145308.4:c.245C>T (LRTOMT)	NP_001138780.1:p.Ala82Val
NM_001145309.3:c.245C>T (LRTOMT)	NP_001138781.1:p.Ala82Val
NM_001145310.3:c.125C>T (LRTOMT)	NP_001138782.1:p.Ala42Val
XM_011544849.1:c.470C>T (LRTOMT)	XP_011543151.1:p.Ala157Val
XM_024448401.1:c.470C>T (LRTOMT)	XP_024304169.1:p.Ala157Val
NM_001145308.5:c.245C>T (LRTOMT)	NP_001138780.1:p.Ala82Val
NM_001145309.4:c.245C>T (LRTOMT)	NP_001138781.1:p.Ala82Val
NM_001145310.4:c.125C>T (LRTOMT)	NP_001138782.1:p.Ala42Val
NM_001393500.1:c.146C>T (TOMT)	NP_001380429.1:p.Ala49Val
NM_001393500.2:c.146C>T (TOMT) MANE Select	NP_001380429.1:p.Ala49Val