Canonical Allele Identifier: CA1200473128
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137674G= , CM000663.2:g.156137674G= GRCh38
NC_000001.10:g.156107465G= , CM000663.1:g.156107465G= GRCh37
NC_000001.9:g.154374089G= NCBI36
NG_008692.2:g.60102G= , LRG_254:g.60102G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1071G= ENSP00000426535.3:p.Leu357=
ENST00000498722.3:n.861G=
ENST00000682650.1:c.1608+442G= ENSP00000506904.1:n.1608+442G=
ENST00000683032.1:c.1629G= ENSP00000506771.1:p.Leu543=
ENST00000684195.1:c.1600G= ENSP00000508220.1:p.Gly534=
ENST00000361308.9:c.1629G= ENSP00000355292.6:p.Leu543=
ENST00000368300.9:c.1629G= MANE Select ENSP00000357283.4:p.Leu543=
ENST00000496738.6:n.2088G=
ENST00000674518.1:c.*979G= ENSP00000502261.1:n.*979G=
ENST00000674600.1:c.*1428G= ENSP00000501666.1:n.*1428G=
ENST00000674720.1:c.*191G= ENSP00000502798.1:n.*191G=
ENST00000675431.1:n.1322G=
ENST00000675455.1:c.*1429G= ENSP00000501795.1:n.*1429G=
ENST00000675667.1:c.1629G= ENSP00000501803.1:p.Leu543=
ENST00000675874.1:c.*1100G= ENSP00000501851.1:n.*1100G=
ENST00000675881.1:c.*640G= ENSP00000501670.1:n.*640G=
ENST00000675939.1:c.1629G= ENSP00000502256.1:p.Leu543=
ENST00000675989.1:n.2488G=
ENST00000676208.1:c.*732G= ENSP00000502468.1:n.*732G=
ENST00000676283.1:n.2425G=
ENST00000676385.2:c.1608+442G= ENSP00000502091.1:n.1608+442G=
ENST00000676434.1:c.*640G= ENSP00000501648.1:n.*640G=
ENST00000677389.1:c.1629G= MANE Plus Clinical ENSP00000503633.1:p.Leu543=
ENST00000347559.6:c.1608+442G= ENSP00000292304.3:n.1608+442G=
ENST00000361308.8:c.1374G= ENSP00000355292.5:p.Leu458=
ENST00000368297.5:c.1386G= ENSP00000357280.1:p.Leu462=
ENST00000368299.7:c.1629G= ENSP00000357282.3:p.Leu543=
ENST00000368300.8:c.1629G= ENSP00000357283.4:p.Leu543=
ENST00000368301.6:c.1629G= ENSP00000357284.2:p.Leu543=
ENST00000448611.6:c.1293G= ENSP00000395597.2:p.Leu431=
ENST00000473598.6:c.1332G= ENSP00000421821.1:p.Leu444=
ENST00000496738.5:n.1098G=
ENST00000498722.2:n.861G=
ENST00000506981.1:n.213G=
ENST00000508500.1:c.486+442G= ENSP00000424977.1:n.486+442G=
NM_001257374.2:c.1293G= NP_001244303.1:p.Leu431=
NM_001282624.1:c.1386G= NP_001269553.1:p.Leu462=
NM_001282625.1:c.1629G= NP_001269554.1:p.Leu543=
NM_001282626.1:c.1629G= NP_001269555.1:p.Leu543=
NM_005572.3:c.1629G= , LRG_254t1:c.1629G= NP_005563.1:p.Leu543=
NM_170707.3:c.1629G= NP_733821.1:p.Leu543=
NM_170708.3:c.1608+442G= NP_733822.1:n.1608+442G=
XM_011509533.1:c.1293G= XP_011507835.1:p.Leu431=
XM_011509534.1:c.1005G= XP_011507836.1:p.Leu335=
XR_921781.1:n.1918G=
XM_011509534.2:c.1005G= XP_011507836.1:p.Leu335=
XR_921781.2:n.1916G=
NM_170707.4:c.1629G= MANE Select NP_733821.1:p.Leu543=
NM_001257374.3:c.1293G= NP_001244303.1:p.Leu431=
NM_001282626.2:c.1629G= NP_001269555.1:p.Leu543=
NM_001282624.2:c.1386G= NP_001269553.1:p.Leu462=
NM_001282625.2:c.1629G= NP_001269554.1:p.Leu543=
NM_005572.4:c.1629G= MANE Plus Clinical NP_005563.1:p.Leu543=
NM_170708.4:c.1608+442G= NP_733822.1:n.1608+442G=