Canonical Allele Identifier: CA1142389583
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136359C= , CM000663.2:g.156136359C= GRCh38
NC_000001.10:g.156106150C= , CM000663.1:g.156106150C= GRCh37
NC_000001.9:g.154372774C= NCBI36
NG_008692.2:g.58787C= , LRG_254:g.58787C=

Transcript Alleles

HGVS Amino-acid Change
NM_170707.4:c.1303C= MANE Select NP_733821.1:p.Arg435=
ENST00000368300.9:c.1303C= MANE Select ENSP00000357283.4:p.Arg435=
NM_005572.4:c.1303C= MANE Plus Clinical NP_005563.1:p.Arg435=
ENST00000677389.1:c.1303C= MANE Plus Clinical ENSP00000503633.1:p.Arg435=
NM_001257374.2:c.967C= NP_001244303.1:p.Arg323=
NM_001257374.3:c.967C= NP_001244303.1:p.Arg323=
NM_001282624.1:c.1060C= NP_001269553.1:p.Arg354=
NM_001282624.2:c.1060C= NP_001269553.1:p.Arg354=
NM_001282625.1:c.1303C= NP_001269554.1:p.Arg435=
NM_001282625.2:c.1303C= NP_001269554.1:p.Arg435=
NM_001282626.1:c.1303C= NP_001269555.1:p.Arg435=
NM_001282626.2:c.1303C= NP_001269555.1:p.Arg435=
NM_005572.3:c.1303C= , LRG_254t1:c.1303C= NP_005563.1:p.Arg435=
NM_170707.3:c.1303C= NP_733821.1:p.Arg435=
NM_170708.3:c.1303C= NP_733822.1:p.Arg435=
NM_170708.4:c.1303C= NP_733822.1:p.Arg435=
ENST00000347559.6:c.1303C= ENSP00000292304.3:p.Arg435=
ENST00000361308.8:c.1303C= ENSP00000355292.5:p.Arg435=
ENST00000361308.9:c.1303C= ENSP00000355292.6:p.Arg435=
ENST00000368297.5:c.1060C= ENSP00000357280.1:p.Arg354=
ENST00000368298.2:n.567C=
ENST00000368299.7:c.1303C= ENSP00000357282.3:p.Arg435=
ENST00000368300.8:c.1303C= ENSP00000357283.4:p.Arg435=
ENST00000368301.6:c.1303C= ENSP00000357284.2:p.Arg435=
ENST00000448611.6:c.967C= ENSP00000395597.2:p.Arg323=
ENST00000459904.1:n.67C=
ENST00000459904.2:n.67C=
ENST00000473598.6:c.1006C= ENSP00000421821.1:p.Arg336=
ENST00000496738.5:n.688C=
ENST00000496738.6:n.1678C=
ENST00000498722.2:n.535C=
ENST00000498722.3:n.535C=
ENST00000504687.7:c.745C= ENSP00000426535.3:p.Arg249=
ENST00000508500.1:c.181C= ENSP00000424977.1:p.Arg61=
ENST00000674518.1:c.*653C= ENSP00000502261.1:n.*653C=
ENST00000674600.1:c.*1102C= ENSP00000501666.1:n.*1102C=
ENST00000674720.1:c.1303C= ENSP00000502798.1:p.Arg435=
ENST00000675431.1:n.996C=
ENST00000675455.1:c.*1103C= ENSP00000501795.1:n.*1103C=
ENST00000675667.1:c.1303C= ENSP00000501803.1:p.Arg435=
ENST00000675874.1:c.*774C= ENSP00000501851.1:n.*774C=
ENST00000675881.1:c.*314C= ENSP00000501670.1:n.*314C=
ENST00000675939.1:c.1303C= ENSP00000502256.1:p.Arg435=
ENST00000675989.1:n.1678C=
ENST00000676208.1:c.*406C= ENSP00000502468.1:n.*406C=
ENST00000676283.1:n.1678C=
ENST00000676385.2:c.1303C= ENSP00000502091.1:p.Arg435=
ENST00000676434.1:c.*314C= ENSP00000501648.1:n.*314C=
ENST00000682650.1:c.1303C= ENSP00000506904.1:p.Arg435=
ENST00000683032.1:c.1303C= ENSP00000506771.1:p.Arg435=
ENST00000684195.1:c.1303C= ENSP00000508220.1:p.Arg435=
XM_011509533.1:c.967C= XP_011507835.1:p.Arg323=
XM_011509534.1:c.679C= XP_011507836.1:p.Arg227=
XM_011509534.2:c.679C= XP_011507836.1:p.Arg227=
XR_921781.1:n.1592C=
XR_921781.2:n.1590C=