Canonical Allele Identifier: CA381717625

Gene: TOMT LRTOMT LRRC51

Linked Data

• MyVariant Identifiers: chr11:g.71817118T>G (hg19) ; chr11:g.72106072T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106072T>G , CM000673.2:g.72106072T>G	GRCh38
NC_000011.9:g.71817118T>G , CM000673.1:g.71817118T>G	GRCh37
NC_000011.8:g.71494766T>G	NCBI36
NG_021423.1:g.30737T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.121T>G (TOMT) MANE Select	ENSP00000494667.1:p.Ser41Ala
ENST00000541899.2:c.121T>G (TOMT)	ENSP00000494667.1:p.Ser41Ala
ENST00000643715.1:c.438-2533T>G (LRTOMT)	ENSP00000496019.1:n.438-2533T>G
ENST00000646163.1:c.89T>G (LRTOMT)	ENSP00000494749.1:p.Val30Gly
ENST00000307198.11:c.220T>G (LRRC51)	ENSP00000305742.7:p.Ser74Ala
ENST00000419228.2:c.100T>G (LRRC51)	ENSP00000392233.2:p.Ser34Ala
ENST00000427369.6:c.623T>G (LRRC51)	ENSP00000409403.2:p.Val208Gly
ENST00000435085.5:c.220T>G (LRRC51)	ENSP00000409789.1:p.Ser74Ala
ENST00000439209.5:c.438-2533T>G (LRRC51)	ENSP00000395139.1:n.438-2533T>G
ENST00000541899.1:n.278T>G (LRRC51)
ENST00000544409.5:c.503T>G (LRRC51)	ENSP00000440969.1:p.Val168Gly
NM_001145308.4:c.220T>G (LRTOMT)	NP_001138780.1:p.Ser74Ala
NM_001145309.3:c.220T>G (LRTOMT)	NP_001138781.1:p.Ser74Ala
NM_001145310.3:c.100T>G (LRTOMT)	NP_001138782.1:p.Ser34Ala
XM_011544849.1:c.445T>G (LRTOMT)	XP_011543151.1:p.Ser149Ala
XM_024448401.1:c.445T>G (LRTOMT)	XP_024304169.1:p.Ser149Ala
NM_001145308.5:c.220T>G (LRTOMT)	NP_001138780.1:p.Ser74Ala
NM_001145309.4:c.220T>G (LRTOMT)	NP_001138781.1:p.Ser74Ala
NM_001145310.4:c.100T>G (LRTOMT)	NP_001138782.1:p.Ser34Ala
NM_001393500.1:c.121T>G (TOMT)	NP_001380429.1:p.Ser41Ala
NM_001393500.2:c.121T>G (TOMT) MANE Select	NP_001380429.1:p.Ser41Ala