Canonical Allele Identifier: CA3879798
Community Standard Title: NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
Gene: LMBRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.69718968C>T , CM000668.2:g.69718968C>T GRCh38
NC_000006.11:g.70428860C>T , CM000668.1:g.70428860C>T GRCh37
NC_000006.10:g.70485581C>T NCBI36
NG_016012.1:g.83190G>A
NG_016012.2:g.152649G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018368.4:c.750G>A MANE Select NP_060838.3:p.Thr250=
ENST00000649934.3:c.750G>A MANE Select ENSP00000497690.1:p.Thr250=
NM_001363722.1:c.531G>A NP_001350651.1:p.Thr177=
NM_001363722.2:c.531G>A NP_001350651.1:p.Thr177=
NM_001367271.1:c.531G>A NP_001354200.1:p.Thr177=
NM_001367272.1:c.531G>A NP_001354201.1:p.Thr177=
NM_018368.3:c.750G>A NP_060838.3:p.Thr250=
ENST00000370570.5:c.531G>A ENSP00000359602.1:p.Thr177=
ENST00000370570.6:c.531G>A ENSP00000359602.1:p.Thr177=
ENST00000370577.7:c.750G>A ENSP00000359609.3:p.Thr250=
ENST00000472827.1:c.750G>A ENSP00000433385.1:p.Thr250=
ENST00000472827.2:c.750G>A ENSP00000433385.2:p.Thr250=
ENST00000647650.1:c.*247G>A ENSP00000497808.1:n.*247G>A
ENST00000647655.1:n.2353G>A
ENST00000647934.1:n.1070G>A
ENST00000647964.1:c.531G>A ENSP00000496784.1:p.Thr177=
ENST00000648168.1:c.531G>A ENSP00000498178.1:p.Thr177=
ENST00000648210.1:n.561G>A
ENST00000648265.1:n.617G>A
ENST00000648303.1:c.*323G>A ENSP00000498133.1:n.*323G>A
ENST00000648394.1:c.531G>A ENSP00000497302.1:p.Thr177=
ENST00000648635.1:c.*515G>A ENSP00000497204.1:n.*515G>A
ENST00000648743.1:c.531G>A ENSP00000497135.1:p.Thr177=
ENST00000649011.1:c.816G>A ENSP00000497575.1:p.Thr272=
ENST00000649028.1:c.531G>A ENSP00000498034.1:p.Thr177=
ENST00000649054.1:c.531G>A ENSP00000496991.1:p.Thr177=
ENST00000649057.1:c.*315G>A ENSP00000497639.1:n.*315G>A
ENST00000649166.1:c.*434G>A ENSP00000496844.1:n.*434G>A
ENST00000649370.1:n.559G>A
ENST00000649673.1:c.750G>A ENSP00000497864.1:p.Thr250=
ENST00000649679.1:c.531G>A ENSP00000497387.1:p.Thr177=
ENST00000649744.1:n.938G>A
ENST00000649795.1:c.*337G>A ENSP00000498147.1:n.*337G>A
ENST00000649918.1:c.531G>A ENSP00000497487.1:p.Thr177=
ENST00000649958.1:c.*260G>A ENSP00000496827.1:n.*260G>A
ENST00000649970.1:c.554G>A
ENST00000650035.1:c.531G>A ENSP00000497703.1:p.Thr177=
ENST00000650043.1:n.729G>A
ENST00000650107.1:c.531G>A ENSP00000497124.1:p.Thr177=
ENST00000650124.1:c.*260G>A ENSP00000497903.1:n.*260G>A
ENST00000650473.1:c.503G>A ENSP00000497045.1:n.503G>A
XM_006715511.2:c.138G>A XP_006715574.1:p.Thr46=
XM_011535941.1:c.531G>A XP_011534243.1:p.Thr177=
XM_024446488.1:c.531G>A XP_024302256.1:p.Thr177=