Canonical Allele Identifier: CA450707366
Community Standard Title: NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
Gene: LMBRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.69676456A>G , CM000668.2:g.69676456A>G GRCh38
NC_000006.11:g.70386348A>G , CM000668.1:g.70386348A>G GRCh37
NC_000006.10:g.70443069A>G NCBI36
NG_016012.1:g.125702T>C
NG_016012.2:g.195161T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018368.4:c.1503T>C MANE Select NP_060838.3:p.Phe501=
ENST00000649934.3:c.1503T>C MANE Select ENSP00000497690.1:p.Phe501=
NM_001363722.1:c.1284T>C NP_001350651.1:p.Phe428=
NM_001363722.2:c.1284T>C NP_001350651.1:p.Phe428=
NM_001367271.1:c.1284T>C NP_001354200.1:p.Phe428=
NM_001367272.1:c.1284T>C NP_001354201.1:p.Phe428=
NM_018368.3:c.1503T>C NP_060838.3:p.Phe501=
ENST00000370570.5:c.1284T>C ENSP00000359602.1:p.Phe428=
ENST00000370570.6:c.1284T>C ENSP00000359602.1:p.Phe428=
ENST00000370577.7:c.1503T>C ENSP00000359609.3:p.Phe501=
ENST00000472827.1:c.*257T>C ENSP00000433385.1:n.*257T>C
ENST00000472827.2:c.*668T>C ENSP00000433385.2:n.*668T>C
ENST00000647650.1:c.*1000T>C ENSP00000497808.1:n.*1000T>C
ENST00000647655.1:n.3106T>C
ENST00000647934.1:n.1823T>C
ENST00000647964.1:c.1284T>C ENSP00000496784.1:p.Phe428=
ENST00000648168.1:c.1284T>C ENSP00000498178.1:p.Phe428=
ENST00000648210.1:n.1314T>C
ENST00000648265.1:n.1370T>C
ENST00000648303.1:c.*1076T>C ENSP00000498133.1:n.*1076T>C
ENST00000648394.1:c.1284T>C ENSP00000497302.1:p.Phe428=
ENST00000648635.1:c.*1268T>C ENSP00000497204.1:n.*1268T>C
ENST00000648743.1:c.1284T>C ENSP00000497135.1:p.Phe428=
ENST00000649011.1:c.1569T>C ENSP00000497575.1:p.Phe523=
ENST00000649028.1:c.1284T>C ENSP00000498034.1:p.Phe428=
ENST00000649054.1:c.*560T>C ENSP00000496991.1:n.*560T>C
ENST00000649057.1:c.*1068T>C ENSP00000497639.1:n.*1068T>C
ENST00000649166.1:c.*1187T>C ENSP00000496844.1:n.*1187T>C
ENST00000649370.1:n.1694T>C
ENST00000649673.1:c.*859T>C ENSP00000497864.1:n.*859T>C
ENST00000649679.1:c.1284T>C ENSP00000497387.1:p.Phe428=
ENST00000649744.1:n.1691T>C
ENST00000649918.1:c.1284T>C ENSP00000497487.1:p.Phe428=
ENST00000649958.1:c.*1088T>C ENSP00000496827.1:n.*1088T>C
ENST00000650035.1:c.1284T>C ENSP00000497703.1:p.Phe428=
ENST00000650043.1:n.1482T>C
ENST00000650107.1:c.1284T>C ENSP00000497124.1:p.Phe428=
ENST00000650124.1:c.*946T>C ENSP00000497903.1:n.*946T>C
ENST00000650473.1:c.1256T>C ENSP00000497045.1:n.1256T>C
ENST00000651675.1:c.247T>C
XM_006715511.2:c.891T>C XP_006715574.1:p.Phe297=
XM_011535941.1:c.1284T>C XP_011534243.1:p.Phe428=
XM_024446488.1:c.1284T>C XP_024302256.1:p.Phe428=