Canonical Allele Identifier: CA1200472906
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137174A= , CM000663.2:g.156137174A= GRCh38
NC_000001.10:g.156106965A= , CM000663.1:g.156106965A= GRCh37
NC_000001.9:g.154373589A= NCBI36
NG_008692.2:g.59602A= , LRG_254:g.59602A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.992A= ENSP00000426535.3:p.Gln331=
ENST00000459904.2:n.798A=
ENST00000498722.3:n.782A=
ENST00000682650.1:c.1550A= ENSP00000506904.1:p.Gln517=
ENST00000683032.1:c.1550A= ENSP00000506771.1:p.Gln517=
ENST00000684195.1:c.1550A= ENSP00000508220.1:p.Gln517=
ENST00000361308.9:c.1550A= ENSP00000355292.6:p.Gln517=
ENST00000368300.9:c.1550A= MANE Select ENSP00000357283.4:p.Gln517=
ENST00000496738.6:n.2009A=
ENST00000674518.1:c.*900A= ENSP00000502261.1:n.*900A=
ENST00000674600.1:c.*1349A= ENSP00000501666.1:n.*1349A=
ENST00000674720.1:c.*112A= ENSP00000502798.1:n.*112A=
ENST00000675431.1:n.1243A=
ENST00000675455.1:c.*1350A= ENSP00000501795.1:n.*1350A=
ENST00000675667.1:c.1550A= ENSP00000501803.1:p.Gln517=
ENST00000675874.1:c.*1021A= ENSP00000501851.1:n.*1021A=
ENST00000675881.1:c.*561A= ENSP00000501670.1:n.*561A=
ENST00000675939.1:c.1550A= ENSP00000502256.1:p.Gln517=
ENST00000675989.1:n.2409A=
ENST00000676208.1:c.*653A= ENSP00000502468.1:n.*653A=
ENST00000676283.1:n.1925A=
ENST00000676385.2:c.1550A= ENSP00000502091.1:p.Gln517=
ENST00000676434.1:c.*561A= ENSP00000501648.1:n.*561A=
ENST00000677389.1:c.1550A= MANE Plus Clinical ENSP00000503633.1:p.Gln517=
ENST00000347559.6:c.1550A= ENSP00000292304.3:p.Gln517=
ENST00000361308.8:c.1312-17A= ENSP00000355292.5:n.1312-17A=
ENST00000368297.5:c.1307A= ENSP00000357280.1:p.Gln436=
ENST00000368298.2:n.1382A=
ENST00000368299.7:c.1550A= ENSP00000357282.3:p.Gln517=
ENST00000368300.8:c.1550A= ENSP00000357283.4:p.Gln517=
ENST00000368301.6:c.1550A= ENSP00000357284.2:p.Gln517=
ENST00000448611.6:c.1214A= ENSP00000395597.2:p.Gln405=
ENST00000459904.1:n.798A=
ENST00000473598.6:c.1253A= ENSP00000421821.1:p.Gln418=
ENST00000496738.5:n.1019A=
ENST00000498722.2:n.782A=
ENST00000508500.1:c.428A= ENSP00000424977.1:p.Gln143=
NM_001257374.2:c.1214A= NP_001244303.1:p.Gln405=
NM_001282624.1:c.1307A= NP_001269553.1:p.Gln436=
NM_001282625.1:c.1550A= NP_001269554.1:p.Gln517=
NM_001282626.1:c.1550A= NP_001269555.1:p.Gln517=
NM_005572.3:c.1550A= , LRG_254t1:c.1550A= NP_005563.1:p.Gln517=
NM_170707.3:c.1550A= NP_733821.1:p.Gln517=
NM_170708.3:c.1550A= NP_733822.1:p.Gln517=
XM_011509533.1:c.1214A= XP_011507835.1:p.Gln405=
XM_011509534.1:c.926A= XP_011507836.1:p.Gln309=
XR_921781.1:n.1839A=
XM_011509534.2:c.926A= XP_011507836.1:p.Gln309=
XR_921781.2:n.1837A=
NM_170707.4:c.1550A= MANE Select NP_733821.1:p.Gln517=
NM_001257374.3:c.1214A= NP_001244303.1:p.Gln405=
NM_001282626.2:c.1550A= NP_001269555.1:p.Gln517=
NM_001282624.2:c.1307A= NP_001269553.1:p.Gln436=
NM_001282625.2:c.1550A= NP_001269554.1:p.Gln517=
NM_005572.4:c.1550A= MANE Plus Clinical NP_005563.1:p.Gln517=
NM_170708.4:c.1550A= NP_733822.1:p.Gln517=