Canonical Allele Identifier: CA6168514

Gene: LAMTOR1 LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72099243C>T , CM000673.2:g.72099243C>T	GRCh38
NC_000011.9:g.71810289C>T , CM000673.1:g.71810289C>T	GRCh37
NC_000011.8:g.71487937C>T	NCBI36
NG_021423.1:g.23908C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017907.3:c.56G>A (LAMTOR1) MANE Select	NP_060377.1:p.Arg19Gln
ENST00000278671.10:c.56G>A (LAMTOR1) MANE Select	ENSP00000278671.5:p.Arg19Gln
NM_001145308.4:c.34+4147C>T (LRTOMT)	NP_001138780.1:n.34+4147C>T
NM_001145308.5:c.34+4147C>T (LRTOMT)	NP_001138780.1:n.34+4147C>T
NM_001145309.3:c.34+4147C>T (LRTOMT)	NP_001138781.1:n.34+4147C>T
NM_001145309.4:c.34+4147C>T (LRTOMT)	NP_001138781.1:n.34+4147C>T
NM_001145310.3:c.34+4147C>T (LRTOMT)	NP_001138782.1:n.34+4147C>T
NM_001145310.4:c.34+4147C>T (LRTOMT)	NP_001138782.1:n.34+4147C>T
NM_017907.2:c.56G>A (LAMTOR1)	NP_060377.1:p.Arg19Gln
ENST00000278671.9:c.56G>A (LAMTOR1)	ENSP00000278671.5:p.Arg19Gln
ENST00000307198.11:c.34+4147C>T (LRRC51)	ENSP00000305742.7:n.34+4147C>T
ENST00000419228.2:c.34+4147C>T (LRRC51)	ENSP00000392233.2:n.34+4147C>T
ENST00000427369.6:c.437+4147C>T (LRRC51)	ENSP00000409403.2:n.437+4147C>T
ENST00000435085.5:c.34+4147C>T (LRRC51)	ENSP00000409789.1:n.34+4147C>T
ENST00000439209.5:c.437+4147C>T (LRRC51)	ENSP00000395139.1:n.437+4147C>T
ENST00000535107.5:c.56G>A (LAMTOR1)	ENSP00000445170.1:p.Arg19Gln
ENST00000535872.1:c.6-5G>A (LAMTOR1)	ENSP00000439482.1:n.6-5G>A
ENST00000538404.1:c.56G>A (LAMTOR1)	ENSP00000439011.1:p.Arg19Gln
ENST00000539797.5:n.103G>A (LAMTOR1)
ENST00000541403.1:n.112G>A (LAMTOR1)
ENST00000544409.5:c.437+4147C>T (LRRC51)	ENSP00000440969.1:n.437+4147C>T
ENST00000544594.5:c.16G>A (LAMTOR1)
ENST00000545249.5:c.56G>A (LAMTOR1)	ENSP00000440738.1:p.Arg19Gln
ENST00000643715.1:c.437+4147C>T (LRTOMT)	ENSP00000496019.1:n.437+4147C>T
ENST00000646163.1:c.23+4147C>T (LRTOMT)	ENSP00000494749.1:n.23+4147C>T