Canonical Allele Identifier: CA3879672

Gene: LMBRD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.69700796C>T , CM000668.2:g.69700796C>T	GRCh38
NC_000006.11:g.70410688C>T , CM000668.1:g.70410688C>T	GRCh37
NC_000006.10:g.70467409C>T	NCBI36
NG_016012.1:g.101362G>A
NG_016012.2:g.170821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370570.6:c.938G>A	ENSP00000359602.1:p.Arg313Gln
ENST00000472827.2:c.*322G>A	ENSP00000433385.2:n.*322G>A
ENST00000647650.1:c.*654G>A	ENSP00000497808.1:n.*654G>A
ENST00000647655.1:n.2760G>A
ENST00000647934.1:n.1477G>A
ENST00000647964.1:c.938G>A	ENSP00000496784.1:p.Arg313Gln
ENST00000648168.1:c.938G>A	ENSP00000498178.1:p.Arg313Gln
ENST00000648210.1:n.968G>A
ENST00000648265.1:n.1024G>A
ENST00000648303.1:c.*730G>A	ENSP00000498133.1:n.*730G>A
ENST00000648394.1:c.938G>A	ENSP00000497302.1:p.Arg313Gln
ENST00000648635.1:c.*922G>A	ENSP00000497204.1:n.*922G>A
ENST00000648743.1:c.938G>A	ENSP00000497135.1:p.Arg313Gln
ENST00000649011.1:c.1223G>A	ENSP00000497575.1:p.Arg408Gln
ENST00000649028.1:c.938G>A	ENSP00000498034.1:p.Arg313Gln
ENST00000649054.1:c.*214G>A	ENSP00000496991.1:n.*214G>A
ENST00000649057.1:c.*722G>A	ENSP00000497639.1:n.*722G>A
ENST00000649166.1:c.*841G>A	ENSP00000496844.1:n.*841G>A
ENST00000649370.1:n.1348G>A
ENST00000649673.1:c.*513G>A	ENSP00000497864.1:n.*513G>A
ENST00000649679.1:c.938G>A	ENSP00000497387.1:p.Arg313Gln
ENST00000649744.1:n.1345G>A
ENST00000649918.1:c.938G>A	ENSP00000497487.1:p.Arg313Gln
ENST00000649934.3:c.1157G>A MANE Select	ENSP00000497690.1:p.Arg386Gln
ENST00000649958.1:c.*742G>A	ENSP00000496827.1:n.*742G>A
ENST00000650035.1:c.938G>A	ENSP00000497703.1:p.Arg313Gln
ENST00000650043.1:n.1136G>A
ENST00000650107.1:c.938G>A	ENSP00000497124.1:p.Arg313Gln
ENST00000650124.1:c.*600G>A	ENSP00000497903.1:n.*600G>A
ENST00000650473.1:c.910G>A	ENSP00000497045.1:n.910G>A
ENST00000370570.5:c.938G>A	ENSP00000359602.1:p.Arg313Gln
ENST00000370577.7:c.1157G>A	ENSP00000359609.3:p.Arg386Gln
ENST00000472827.1:c.1090G>A	ENSP00000433385.1:p.Glu364Lys
NM_018368.3:c.1157G>A	NP_060838.3:p.Arg386Gln
XM_006715511.2:c.545G>A	XP_006715574.1:p.Arg182Gln
XM_011535941.1:c.938G>A	XP_011534243.1:p.Arg313Gln
NM_001363722.1:c.938G>A	NP_001350651.1:p.Arg313Gln
XM_024446488.1:c.938G>A	XP_024302256.1:p.Arg313Gln
NM_001363722.2:c.938G>A	NP_001350651.1:p.Arg313Gln
NM_001367271.1:c.938G>A	NP_001354200.1:p.Arg313Gln
NM_001367272.1:c.938G>A	NP_001354201.1:p.Arg313Gln
NM_018368.4:c.1157G>A MANE Select	NP_060838.3:p.Arg386Gln