Canonical Allele Identifier: CA381717845

Gene: TOMT LRTOMT LRRC51

Linked Data

• MyVariant Identifiers: chr11:g.71817160A>T (hg19) ; chr11:g.72106114A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106114A>T , CM000673.2:g.72106114A>T	GRCh38
NC_000011.9:g.71817160A>T , CM000673.1:g.71817160A>T	GRCh37
NC_000011.8:g.71494808A>T	NCBI36
NG_021423.1:g.30779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.163A>T (TOMT) MANE Select	ENSP00000494667.1:p.Thr55Ser
ENST00000541899.2:c.163A>T (TOMT)	ENSP00000494667.1:p.Thr55Ser
ENST00000643715.1:c.438-2491A>T (LRTOMT)	ENSP00000496019.1:n.438-2491A>T
ENST00000646163.1:c.131A>T (LRTOMT)	ENSP00000494749.1:p.His44Leu
ENST00000307198.11:c.262A>T (LRRC51)	ENSP00000305742.7:p.Thr88Ser
ENST00000419228.2:c.142A>T (LRRC51)	ENSP00000392233.2:p.Thr48Ser
ENST00000427369.6:c.665A>T (LRRC51)	ENSP00000409403.2:p.His222Leu
ENST00000435085.5:c.262A>T (LRRC51)	ENSP00000409789.1:p.Thr88Ser
ENST00000439209.5:c.438-2491A>T (LRRC51)	ENSP00000395139.1:n.438-2491A>T
ENST00000541899.1:n.320A>T (LRRC51)
ENST00000544409.5:c.545A>T (LRRC51)	ENSP00000440969.1:p.His182Leu
NM_001145308.4:c.262A>T (LRTOMT)	NP_001138780.1:p.Thr88Ser
NM_001145309.3:c.262A>T (LRTOMT)	NP_001138781.1:p.Thr88Ser
NM_001145310.3:c.142A>T (LRTOMT)	NP_001138782.1:p.Thr48Ser
XM_011544849.1:c.487A>T (LRTOMT)	XP_011543151.1:p.Thr163Ser
XM_024448401.1:c.487A>T (LRTOMT)	XP_024304169.1:p.Thr163Ser
NM_001145308.5:c.262A>T (LRTOMT)	NP_001138780.1:p.Thr88Ser
NM_001145309.4:c.262A>T (LRTOMT)	NP_001138781.1:p.Thr88Ser
NM_001145310.4:c.142A>T (LRTOMT)	NP_001138782.1:p.Thr48Ser
NM_001393500.1:c.163A>T (TOMT)	NP_001380429.1:p.Thr55Ser
NM_001393500.2:c.163A>T (TOMT) MANE Select	NP_001380429.1:p.Thr55Ser