Canonical Allele Identifier: CA3879514
Gene: LMBRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.69676225G>A , CM000668.2:g.69676225G>A GRCh38
NC_000006.11:g.70386117G>A , CM000668.1:g.70386117G>A GRCh37
NC_000006.10:g.70442838G>A NCBI36
NG_016012.1:g.125933C>T
NG_016012.2:g.195392C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018368.4:c.1556C>T MANE Select NP_060838.3:p.Ser519Leu
ENST00000649934.3:c.1556C>T MANE Select ENSP00000497690.1:p.Ser519Leu
NM_001363722.1:c.1337C>T NP_001350651.1:p.Ser446Leu
NM_001363722.2:c.1337C>T NP_001350651.1:p.Ser446Leu
NM_001367271.1:c.1337C>T NP_001354200.1:p.Ser446Leu
NM_001367272.1:c.1337C>T NP_001354201.1:p.Ser446Leu
NM_018368.3:c.1556C>T NP_060838.3:p.Ser519Leu
ENST00000370570.5:c.1337C>T ENSP00000359602.1:p.Ser446Leu
ENST00000370570.6:c.1337C>T ENSP00000359602.1:p.Ser446Leu
ENST00000370577.7:c.1556C>T ENSP00000359609.3:p.Ser519Leu
ENST00000472827.1:c.*310C>T ENSP00000433385.1:n.*310C>T
ENST00000472827.2:c.*721C>T ENSP00000433385.2:n.*721C>T
ENST00000647650.1:c.*1053C>T ENSP00000497808.1:n.*1053C>T
ENST00000647655.1:n.3159C>T
ENST00000647934.1:n.1876C>T
ENST00000647964.1:c.1337C>T ENSP00000496784.1:p.Ser446Leu
ENST00000648168.1:c.1337C>T ENSP00000498178.1:p.Ser446Leu
ENST00000648210.1:n.1367C>T
ENST00000648265.1:n.1423C>T
ENST00000648303.1:c.*1129C>T ENSP00000498133.1:n.*1129C>T
ENST00000648394.1:c.1337C>T ENSP00000497302.1:p.Ser446Leu
ENST00000648635.1:c.*1321C>T ENSP00000497204.1:n.*1321C>T
ENST00000648743.1:c.1337C>T ENSP00000497135.1:p.Ser446Leu
ENST00000649011.1:c.1622C>T ENSP00000497575.1:p.Ser541Leu
ENST00000649028.1:c.1337C>T ENSP00000498034.1:p.Ser446Leu
ENST00000649054.1:c.*613C>T ENSP00000496991.1:n.*613C>T
ENST00000649057.1:c.*1121C>T ENSP00000497639.1:n.*1121C>T
ENST00000649166.1:c.*1240C>T ENSP00000496844.1:n.*1240C>T
ENST00000649370.1:n.1747C>T
ENST00000649673.1:c.*912C>T ENSP00000497864.1:n.*912C>T
ENST00000649679.1:c.1337C>T ENSP00000497387.1:p.Ser446Leu
ENST00000649744.1:n.1744C>T
ENST00000649918.1:c.1337C>T ENSP00000497487.1:p.Ser446Leu
ENST00000649958.1:c.*1141C>T ENSP00000496827.1:n.*1141C>T
ENST00000650035.1:c.1337C>T ENSP00000497703.1:p.Ser446Leu
ENST00000650043.1:n.1535C>T
ENST00000650107.1:c.1337C>T ENSP00000497124.1:p.Ser446Leu
ENST00000650124.1:c.*999C>T ENSP00000497903.1:n.*999C>T
ENST00000650473.1:c.1309C>T ENSP00000497045.1:n.1309C>T
ENST00000651675.1:c.300C>T
XM_006715511.2:c.944C>T XP_006715574.1:p.Ser315Leu
XM_011535941.1:c.1337C>T XP_011534243.1:p.Ser446Leu
XM_024446488.1:c.1337C>T XP_024302256.1:p.Ser446Leu