Canonical Allele Identifier: CA381718282

Gene: TOMT LRTOMT LRRC51

Linked Data

• gnomAD v4: 11-72106186-T-G
• MyVariant Identifiers: chr11:g.71817232T>G (hg19) ; chr11:g.72106186T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106186T>G , CM000673.2:g.72106186T>G	GRCh38
NC_000011.9:g.71817232T>G , CM000673.1:g.71817232T>G	GRCh37
NC_000011.8:g.71494880T>G	NCBI36
NG_021423.1:g.30851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.235T>G (TOMT) MANE Select	ENSP00000494667.1:p.Leu79Val
ENST00000541899.2:c.235T>G (TOMT)	ENSP00000494667.1:p.Leu79Val
ENST00000643715.1:c.438-2419T>G (LRTOMT)	ENSP00000496019.1:n.438-2419T>G
ENST00000646163.1:c.*53T>G (LRTOMT)	ENSP00000494749.1:n.*53T>G
ENST00000307198.11:c.334T>G (LRRC51)	ENSP00000305742.7:p.Leu112Val
ENST00000419228.2:c.214T>G (LRRC51)	ENSP00000392233.2:p.Leu72Val
ENST00000427369.6:c.*53T>G (LRRC51)	ENSP00000409403.2:n.*53T>G
ENST00000435085.5:c.334T>G (LRRC51)	ENSP00000409789.1:p.Leu112Val
ENST00000439209.5:c.438-2419T>G (LRRC51)	ENSP00000395139.1:n.438-2419T>G
ENST00000541899.1:n.392T>G (LRRC51)
ENST00000544409.5:c.*53T>G (LRRC51)	ENSP00000440969.1:n.*53T>G
NM_001145308.4:c.334T>G (LRTOMT)	NP_001138780.1:p.Leu112Val
NM_001145309.3:c.334T>G (LRTOMT)	NP_001138781.1:p.Leu112Val
NM_001145310.3:c.214T>G (LRTOMT)	NP_001138782.1:p.Leu72Val
XM_011544849.1:c.559T>G (LRTOMT)	XP_011543151.1:p.Leu187Val
XM_024448401.1:c.559T>G (LRTOMT)	XP_024304169.1:p.Leu187Val
NM_001145308.5:c.334T>G (LRTOMT)	NP_001138780.1:p.Leu112Val
NM_001145309.4:c.334T>G (LRTOMT)	NP_001138781.1:p.Leu112Val
NM_001145310.4:c.214T>G (LRTOMT)	NP_001138782.1:p.Leu72Val
NM_001393500.1:c.235T>G (TOMT)	NP_001380429.1:p.Leu79Val
NM_001393500.2:c.235T>G (TOMT) MANE Select	NP_001380429.1:p.Leu79Val