Canonical Allele Identifier: CA2739273192
Community Standard Title: NM_018368.4(LMBRD1):c.1083+12A>T
Gene: LMBRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.69701431T>A , CM000668.2:g.69701431T>A GRCh38
NC_000006.11:g.70411323T>A , CM000668.1:g.70411323T>A GRCh37
NC_000006.10:g.70468044T>A NCBI36
NG_016012.1:g.100727A>T
NG_016012.2:g.170186A>T

Transcript Alleles

HGVS Amino-acid Change
NM_018368.4:c.1083+12A>T MANE Select NP_060838.3:n.1083+12A>T
ENST00000649934.3:c.1083+12A>T MANE Select ENSP00000497690.1:n.1083+12A>T
NM_001363722.1:c.864+12A>T NP_001350651.1:n.864+12A>T
NM_001363722.2:c.864+12A>T NP_001350651.1:n.864+12A>T
NM_001367271.1:c.864+12A>T NP_001354200.1:n.864+12A>T
NM_001367272.1:c.864+12A>T NP_001354201.1:n.864+12A>T
NM_018368.3:c.1083+12A>T NP_060838.3:n.1083+12A>T
ENST00000370570.5:c.864+12A>T ENSP00000359602.1:n.864+12A>T
ENST00000370570.6:c.864+12A>T ENSP00000359602.1:n.864+12A>T
ENST00000370577.7:c.1083+12A>T ENSP00000359609.3:n.1083+12A>T
ENST00000472827.1:c.1083+12A>T ENSP00000433385.1:n.1083+12A>T
ENST00000472827.2:c.*248+12A>T ENSP00000433385.2:n.*248+12A>T
ENST00000647650.1:c.*580+12A>T ENSP00000497808.1:n.*580+12A>T
ENST00000647655.1:n.2686+12A>T
ENST00000647934.1:n.1403+12A>T
ENST00000647964.1:c.864+12A>T ENSP00000496784.1:n.864+12A>T
ENST00000648168.1:c.864+12A>T ENSP00000498178.1:n.864+12A>T
ENST00000648210.1:n.894+12A>T
ENST00000648265.1:n.950+12A>T
ENST00000648303.1:c.*656+12A>T ENSP00000498133.1:n.*656+12A>T
ENST00000648394.1:c.864+12A>T ENSP00000497302.1:n.864+12A>T
ENST00000648635.1:c.*848+12A>T ENSP00000497204.1:n.*848+12A>T
ENST00000648743.1:c.864+12A>T ENSP00000497135.1:n.864+12A>T
ENST00000649011.1:c.1149+12A>T ENSP00000497575.1:n.1149+12A>T
ENST00000649028.1:c.864+12A>T ENSP00000498034.1:n.864+12A>T
ENST00000649054.1:c.*140+12A>T ENSP00000496991.1:n.*140+12A>T
ENST00000649057.1:c.*648+12A>T ENSP00000497639.1:n.*648+12A>T
ENST00000649166.1:c.*767+12A>T ENSP00000496844.1:n.*767+12A>T
ENST00000649370.1:n.1274+12A>T
ENST00000649673.1:c.*439+12A>T ENSP00000497864.1:n.*439+12A>T
ENST00000649679.1:c.864+12A>T ENSP00000497387.1:n.864+12A>T
ENST00000649744.1:n.1271+12A>T
ENST00000649795.1:c.*670+12A>T ENSP00000498147.1:n.*670+12A>T
ENST00000649918.1:c.864+12A>T ENSP00000497487.1:n.864+12A>T
ENST00000649958.1:c.*668+12A>T ENSP00000496827.1:n.*668+12A>T
ENST00000650035.1:c.864+12A>T ENSP00000497703.1:n.864+12A>T
ENST00000650043.1:n.1062+12A>T
ENST00000650107.1:c.864+12A>T ENSP00000497124.1:n.864+12A>T
ENST00000650124.1:c.*593+12A>T ENSP00000497903.1:n.*593+12A>T
ENST00000650473.1:c.836+12A>T ENSP00000497045.1:n.836+12A>T
XM_006715511.2:c.471+12A>T XP_006715574.1:n.471+12A>T
XM_011535941.1:c.864+12A>T XP_011534243.1:n.864+12A>T
XM_024446488.1:c.864+12A>T XP_024302256.1:n.864+12A>T