Canonical Allele Identifier: CA3879634

Gene: LMBRD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.69699190T>C , CM000668.2:g.69699190T>C	GRCh38
NC_000006.11:g.70409082T>C , CM000668.1:g.70409082T>C	GRCh37
NC_000006.10:g.70465803T>C	NCBI36
NG_016012.1:g.102968A>G
NG_016012.2:g.172427A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018368.4:c.1191A>G MANE Select	NP_060838.3:p.Leu397=
ENST00000649934.3:c.1191A>G MANE Select	ENSP00000497690.1:p.Leu397=
NM_001363722.1:c.972A>G	NP_001350651.1:p.Leu324=
NM_001363722.2:c.972A>G	NP_001350651.1:p.Leu324=
NM_001367271.1:c.972A>G	NP_001354200.1:p.Leu324=
NM_001367272.1:c.972A>G	NP_001354201.1:p.Leu324=
NM_018368.3:c.1191A>G	NP_060838.3:p.Leu397=
ENST00000370570.5:c.972A>G	ENSP00000359602.1:p.Leu324=
ENST00000370570.6:c.972A>G	ENSP00000359602.1:p.Leu324=
ENST00000370577.7:c.1191A>G	ENSP00000359609.3:p.Leu397=
ENST00000472827.1:c.1124A>G	ENSP00000433385.1:p.Tyr375Cys
ENST00000472827.2:c.*356A>G	ENSP00000433385.2:n.*356A>G
ENST00000647650.1:c.*688A>G	ENSP00000497808.1:n.*688A>G
ENST00000647655.1:n.2794A>G
ENST00000647934.1:n.1511A>G
ENST00000647964.1:c.972A>G	ENSP00000496784.1:p.Leu324=
ENST00000648168.1:c.972A>G	ENSP00000498178.1:p.Leu324=
ENST00000648210.1:n.1002A>G
ENST00000648265.1:n.1058A>G
ENST00000648303.1:c.*764A>G	ENSP00000498133.1:n.*764A>G
ENST00000648394.1:c.972A>G	ENSP00000497302.1:p.Leu324=
ENST00000648635.1:c.*956A>G	ENSP00000497204.1:n.*956A>G
ENST00000648743.1:c.972A>G	ENSP00000497135.1:p.Leu324=
ENST00000649011.1:c.1257A>G	ENSP00000497575.1:p.Leu419=
ENST00000649028.1:c.972A>G	ENSP00000498034.1:p.Leu324=
ENST00000649054.1:c.*248A>G	ENSP00000496991.1:n.*248A>G
ENST00000649057.1:c.*756A>G	ENSP00000497639.1:n.*756A>G
ENST00000649166.1:c.*875A>G	ENSP00000496844.1:n.*875A>G
ENST00000649370.1:n.1382A>G
ENST00000649673.1:c.*547A>G	ENSP00000497864.1:n.*547A>G
ENST00000649679.1:c.972A>G	ENSP00000497387.1:p.Leu324=
ENST00000649744.1:n.1379A>G
ENST00000649918.1:c.972A>G	ENSP00000497487.1:p.Leu324=
ENST00000649958.1:c.*776A>G	ENSP00000496827.1:n.*776A>G
ENST00000650035.1:c.972A>G	ENSP00000497703.1:p.Leu324=
ENST00000650043.1:n.1170A>G
ENST00000650107.1:c.972A>G	ENSP00000497124.1:p.Leu324=
ENST00000650124.1:c.*634A>G	ENSP00000497903.1:n.*634A>G
ENST00000650473.1:c.944A>G	ENSP00000497045.1:n.944A>G
XM_006715511.2:c.579A>G	XP_006715574.1:p.Leu193=
XM_011535941.1:c.972A>G	XP_011534243.1:p.Leu324=
XM_024446488.1:c.972A>G	XP_024302256.1:p.Leu324=