Canonical Allele Identifier: CA1139772860
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137743C= , CM000663.2:g.156137743C= GRCh38
NC_000001.10:g.156107534C= , CM000663.1:g.156107534C= GRCh37
NC_000001.9:g.154374158C= NCBI36
NG_008692.2:g.60171C= , LRG_254:g.60171C=

Transcript Alleles

HGVS Amino-acid Change
NM_170707.4:c.1698C= MANE Select NP_733821.1:p.His566=
ENST00000368300.9:c.1698C= MANE Select ENSP00000357283.4:p.His566=
NM_005572.4:c.1698C= MANE Plus Clinical NP_005563.1:p.His566=
ENST00000677389.1:c.1698C= MANE Plus Clinical ENSP00000503633.1:p.His566=
NM_001257374.2:c.1362C= NP_001244303.1:p.His454=
NM_001257374.3:c.1362C= NP_001244303.1:p.His454=
NM_001282624.1:c.1455C= NP_001269553.1:p.His485=
NM_001282624.2:c.1455C= NP_001269553.1:p.His485=
NM_001282625.1:c.1698C= NP_001269554.1:p.His566=
NM_001282625.2:c.1698C= NP_001269554.1:p.His566=
NM_001282626.1:c.1698C= NP_001269555.1:p.His566=
NM_001282626.2:c.1698C= NP_001269555.1:p.His566=
NM_005572.3:c.1698C= , LRG_254t1:c.1698C= NP_005563.1:p.His566=
NM_170707.3:c.1698C= NP_733821.1:p.His566=
NM_170708.3:c.1608+511C= NP_733822.1:n.1608+511C=
NM_170708.4:c.1608+511C= NP_733822.1:n.1608+511C=
ENST00000347559.6:c.1608+511C= ENSP00000292304.3:n.1608+511C=
ENST00000361308.8:c.1443C= ENSP00000355292.5:p.His481=
ENST00000361308.9:c.1698C= ENSP00000355292.6:p.His566=
ENST00000368297.5:c.1455C= ENSP00000357280.1:p.His485=
ENST00000368299.7:c.1698C= ENSP00000357282.3:p.His566=
ENST00000368300.8:c.1698C= ENSP00000357283.4:p.His566=
ENST00000368301.6:c.1698C= ENSP00000357284.2:p.His566=
ENST00000448611.6:c.1362C= ENSP00000395597.2:p.His454=
ENST00000473598.6:c.1401C= ENSP00000421821.1:p.His467=
ENST00000496738.5:n.1167C=
ENST00000496738.6:n.2157C=
ENST00000498722.2:n.930C=
ENST00000498722.3:n.930C=
ENST00000504687.7:c.1140C= ENSP00000426535.3:p.His380=
ENST00000506981.1:n.282C=
ENST00000508500.1:c.486+511C= ENSP00000424977.1:n.486+511C=
ENST00000674518.1:c.*1048C= ENSP00000502261.1:n.*1048C=
ENST00000674600.1:c.*1497C= ENSP00000501666.1:n.*1497C=
ENST00000674720.1:c.*260C= ENSP00000502798.1:n.*260C=
ENST00000675431.1:n.1391C=
ENST00000675455.1:c.*1498C= ENSP00000501795.1:n.*1498C=
ENST00000675667.1:c.1698C= ENSP00000501803.1:p.His566=
ENST00000675874.1:c.*1169C= ENSP00000501851.1:n.*1169C=
ENST00000675881.1:c.*709C= ENSP00000501670.1:n.*709C=
ENST00000675939.1:c.1698C= ENSP00000502256.1:p.His566=
ENST00000675989.1:n.2557C=
ENST00000676208.1:c.*801C= ENSP00000502468.1:n.*801C=
ENST00000676283.1:n.2494C=
ENST00000676385.2:c.1608+511C= ENSP00000502091.1:n.1608+511C=
ENST00000676434.1:c.*709C= ENSP00000501648.1:n.*709C=
ENST00000682650.1:c.1608+511C= ENSP00000506904.1:n.1608+511C=
ENST00000683032.1:c.1698C= ENSP00000506771.1:p.His566=
ENST00000683773.1:n.43C=
ENST00000684195.1:c.*46C= ENSP00000508220.1:n.*46C=
XM_011509533.1:c.1362C= XP_011507835.1:p.His454=
XM_011509534.1:c.1074C= XP_011507836.1:p.His358=
XM_011509534.2:c.1074C= XP_011507836.1:p.His358=
XR_921781.1:n.1987C=
XR_921781.2:n.1985C=