Canonical Allele Identifier: CA140850909

Gene: LMBRD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.69676271C>A , CM000668.2:g.69676271C>A	GRCh38
NC_000006.11:g.70386163C>A , CM000668.1:g.70386163C>A	GRCh37
NC_000006.10:g.70442884C>A	NCBI36
NG_016012.1:g.125887G>T
NG_016012.2:g.195346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370570.6:c.1291G>T	ENSP00000359602.1:p.Val431Leu
ENST00000472827.2:c.*675G>T	ENSP00000433385.2:n.*675G>T
ENST00000647650.1:c.*1007G>T	ENSP00000497808.1:n.*1007G>T
ENST00000647655.1:n.3113G>T
ENST00000647934.1:n.1830G>T
ENST00000647964.1:c.1291G>T	ENSP00000496784.1:p.Val431Leu
ENST00000648168.1:c.1291G>T	ENSP00000498178.1:p.Val431Leu
ENST00000648210.1:n.1321G>T
ENST00000648265.1:n.1377G>T
ENST00000648303.1:c.*1083G>T	ENSP00000498133.1:n.*1083G>T
ENST00000648394.1:c.1291G>T	ENSP00000497302.1:p.Val431Leu
ENST00000648635.1:c.*1275G>T	ENSP00000497204.1:n.*1275G>T
ENST00000648743.1:c.1291G>T	ENSP00000497135.1:p.Val431Leu
ENST00000649011.1:c.1576G>T	ENSP00000497575.1:p.Val526Leu
ENST00000649028.1:c.1291G>T	ENSP00000498034.1:p.Val431Leu
ENST00000649054.1:c.*567G>T	ENSP00000496991.1:n.*567G>T
ENST00000649057.1:c.*1075G>T	ENSP00000497639.1:n.*1075G>T
ENST00000649166.1:c.*1194G>T	ENSP00000496844.1:n.*1194G>T
ENST00000649370.1:n.1701G>T
ENST00000649673.1:c.*866G>T	ENSP00000497864.1:n.*866G>T
ENST00000649679.1:c.1291G>T	ENSP00000497387.1:p.Val431Leu
ENST00000649744.1:n.1698G>T
ENST00000649918.1:c.1291G>T	ENSP00000497487.1:p.Val431Leu
ENST00000649934.3:c.1510G>T MANE Select	ENSP00000497690.1:p.Val504Leu
ENST00000649958.1:c.*1095G>T	ENSP00000496827.1:n.*1095G>T
ENST00000650035.1:c.1291G>T	ENSP00000497703.1:p.Val431Leu
ENST00000650043.1:n.1489G>T
ENST00000650107.1:c.1291G>T	ENSP00000497124.1:p.Val431Leu
ENST00000650124.1:c.*953G>T	ENSP00000497903.1:n.*953G>T
ENST00000650473.1:c.1263G>T	ENSP00000497045.1:n.1263G>T
ENST00000651675.1:c.254G>T
ENST00000370570.5:c.1291G>T	ENSP00000359602.1:p.Val431Leu
ENST00000370577.7:c.1510G>T	ENSP00000359609.3:p.Val504Leu
ENST00000472827.1:c.*264G>T	ENSP00000433385.1:n.*264G>T
NM_018368.3:c.1510G>T	NP_060838.3:p.Val504Leu
XM_006715511.2:c.898G>T	XP_006715574.1:p.Val300Leu
XM_011535941.1:c.1291G>T	XP_011534243.1:p.Val431Leu
NM_001363722.1:c.1291G>T	NP_001350651.1:p.Val431Leu
XM_024446488.1:c.1291G>T	XP_024302256.1:p.Val431Leu
NM_001363722.2:c.1291G>T	NP_001350651.1:p.Val431Leu
NM_001367271.1:c.1291G>T	NP_001354200.1:p.Val431Leu
NM_001367272.1:c.1291G>T	NP_001354201.1:p.Val431Leu
NM_018368.4:c.1510G>T MANE Select	NP_060838.3:p.Val504Leu