Canonical Allele Identifier: CA3879762

Gene: LMBRD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.69713656G>A , CM000668.2:g.69713656G>A	GRCh38
NC_000006.11:g.70423548G>A , CM000668.1:g.70423548G>A	GRCh37
NC_000006.10:g.70480269G>A	NCBI36
NG_016012.1:g.88502C>T
NG_016012.2:g.157961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370570.6:c.685C>T	ENSP00000359602.1:p.Arg229Cys
ENST00000472827.2:c.904C>T	ENSP00000433385.2:p.Arg302Cys
ENST00000647650.1:c.*401C>T	ENSP00000497808.1:n.*401C>T
ENST00000647655.1:n.2507C>T
ENST00000647934.1:n.1224C>T
ENST00000647964.1:c.685C>T	ENSP00000496784.1:p.Arg229Cys
ENST00000648168.1:c.685C>T	ENSP00000498178.1:p.Arg229Cys
ENST00000648210.1:n.715C>T
ENST00000648265.1:n.771C>T
ENST00000648303.1:c.*477C>T	ENSP00000498133.1:n.*477C>T
ENST00000648394.1:c.685C>T	ENSP00000497302.1:p.Arg229Cys
ENST00000648635.1:c.*669C>T	ENSP00000497204.1:n.*669C>T
ENST00000648743.1:c.685C>T	ENSP00000497135.1:p.Arg229Cys
ENST00000649011.1:c.970C>T	ENSP00000497575.1:p.Arg324Cys
ENST00000649028.1:c.685C>T	ENSP00000498034.1:p.Arg229Cys
ENST00000649054.1:c.685C>T	ENSP00000496991.1:p.Arg229Cys
ENST00000649057.1:c.*469C>T	ENSP00000497639.1:n.*469C>T
ENST00000649166.1:c.*588C>T	ENSP00000496844.1:n.*588C>T
ENST00000649370.1:n.713C>T
ENST00000649673.1:c.904C>T	ENSP00000497864.1:p.Arg302Cys
ENST00000649679.1:c.685C>T	ENSP00000497387.1:p.Arg229Cys
ENST00000649744.1:n.1092C>T
ENST00000649795.1:c.*491C>T	ENSP00000498147.1:n.*491C>T
ENST00000649918.1:c.685C>T	ENSP00000497487.1:p.Arg229Cys
ENST00000649934.3:c.904C>T MANE Select	ENSP00000497690.1:p.Arg302Cys
ENST00000649958.1:c.*414C>T	ENSP00000496827.1:n.*414C>T
ENST00000649970.1:c.708C>T
ENST00000650035.1:c.685C>T	ENSP00000497703.1:p.Arg229Cys
ENST00000650043.1:n.883C>T
ENST00000650107.1:c.685C>T	ENSP00000497124.1:p.Arg229Cys
ENST00000650124.1:c.*414C>T	ENSP00000497903.1:n.*414C>T
ENST00000650473.1:c.657C>T	ENSP00000497045.1:n.657C>T
ENST00000370570.5:c.685C>T	ENSP00000359602.1:p.Arg229Cys
ENST00000370577.7:c.904C>T	ENSP00000359609.3:p.Arg302Cys
ENST00000472827.1:c.904C>T	ENSP00000433385.1:p.Arg302Cys
NM_018368.3:c.904C>T	NP_060838.3:p.Arg302Cys
XM_006715511.2:c.292C>T	XP_006715574.1:p.Arg98Cys
XM_011535941.1:c.685C>T	XP_011534243.1:p.Arg229Cys
NM_001363722.1:c.685C>T	NP_001350651.1:p.Arg229Cys
XM_024446488.1:c.685C>T	XP_024302256.1:p.Arg229Cys
NM_001363722.2:c.685C>T	NP_001350651.1:p.Arg229Cys
NM_001367271.1:c.685C>T	NP_001354200.1:p.Arg229Cys
NM_001367272.1:c.685C>T	NP_001354201.1:p.Arg229Cys
NM_018368.4:c.904C>T MANE Select	NP_060838.3:p.Arg302Cys