Canonical Allele Identifier: CA342822504
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136946T>A , CM000663.2:g.156136946T>A GRCh38
NC_000001.10:g.156106737T>A , CM000663.1:g.156106737T>A GRCh37
NC_000001.9:g.154373361T>A NCBI36
NG_008692.2:g.59374T>A , LRG_254:g.59374T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.848T>A ENSP00000426535.3:p.Ile283Asn
ENST00000459904.2:n.654T>A
ENST00000498722.3:n.638T>A
ENST00000682650.1:c.1406T>A ENSP00000506904.1:p.Ile469Asn
ENST00000683032.1:c.1406T>A ENSP00000506771.1:p.Ile469Asn
ENST00000684195.1:c.1406T>A ENSP00000508220.1:p.Ile469Asn
ENST00000361308.9:c.1406T>A ENSP00000355292.6:p.Ile469Asn
ENST00000368300.9:c.1406T>A MANE Select ENSP00000357283.4:p.Ile469Asn
ENST00000496738.6:n.1781T>A
ENST00000674518.1:c.*756T>A ENSP00000502261.1:n.*756T>A
ENST00000674600.1:c.*1205T>A ENSP00000501666.1:n.*1205T>A
ENST00000674720.1:c.1519T>A ENSP00000502798.1:p.Ser507Thr
ENST00000675431.1:n.1099T>A
ENST00000675455.1:c.*1206T>A ENSP00000501795.1:n.*1206T>A
ENST00000675667.1:c.1406T>A ENSP00000501803.1:p.Ile469Asn
ENST00000675874.1:c.*877T>A ENSP00000501851.1:n.*877T>A
ENST00000675881.1:c.*417T>A ENSP00000501670.1:n.*417T>A
ENST00000675939.1:c.1406T>A ENSP00000502256.1:p.Ile469Asn
ENST00000675989.1:n.2265T>A
ENST00000676208.1:c.*509T>A ENSP00000502468.1:n.*509T>A
ENST00000676283.1:n.1781T>A
ENST00000676385.2:c.1406T>A ENSP00000502091.1:p.Ile469Asn
ENST00000676434.1:c.*417T>A ENSP00000501648.1:n.*417T>A
ENST00000677389.1:c.1406T>A MANE Plus Clinical ENSP00000503633.1:p.Ile469Asn
ENST00000347559.6:c.1406T>A ENSP00000292304.3:p.Ile469Asn
ENST00000361308.8:c.1312-245T>A ENSP00000355292.5:n.1312-245T>A
ENST00000368297.5:c.1163T>A ENSP00000357280.1:p.Ile388Asn
ENST00000368298.2:n.1154T>A
ENST00000368299.7:c.1406T>A ENSP00000357282.3:p.Ile469Asn
ENST00000368300.8:c.1406T>A ENSP00000357283.4:p.Ile469Asn
ENST00000368301.6:c.1406T>A ENSP00000357284.2:p.Ile469Asn
ENST00000448611.6:c.1070T>A ENSP00000395597.2:p.Ile357Asn
ENST00000459904.1:n.654T>A
ENST00000473598.6:c.1109T>A ENSP00000421821.1:p.Ile370Asn
ENST00000496738.5:n.791T>A
ENST00000498722.2:n.638T>A
ENST00000508500.1:c.284T>A ENSP00000424977.1:p.Ile95Asn
NM_001257374.2:c.1070T>A NP_001244303.1:p.Ile357Asn
NM_001282624.1:c.1163T>A NP_001269553.1:p.Ile388Asn
NM_001282625.1:c.1406T>A NP_001269554.1:p.Ile469Asn
NM_001282626.1:c.1406T>A NP_001269555.1:p.Ile469Asn
NM_005572.3:c.1406T>A , LRG_254t1:c.1406T>A NP_005563.1:p.Ile469Asn
NM_170707.3:c.1406T>A NP_733821.1:p.Ile469Asn
NM_170708.3:c.1406T>A NP_733822.1:p.Ile469Asn
XM_011509533.1:c.1070T>A XP_011507835.1:p.Ile357Asn
XM_011509534.1:c.782T>A XP_011507836.1:p.Ile261Asn
XR_921781.1:n.1695T>A
XM_011509534.2:c.782T>A XP_011507836.1:p.Ile261Asn
XR_921781.2:n.1693T>A
NM_170707.4:c.1406T>A MANE Select NP_733821.1:p.Ile469Asn
NM_001257374.3:c.1070T>A NP_001244303.1:p.Ile357Asn
NM_001282626.2:c.1406T>A NP_001269555.1:p.Ile469Asn
NM_001282624.2:c.1163T>A NP_001269553.1:p.Ile388Asn
NM_001282625.2:c.1406T>A NP_001269554.1:p.Ile469Asn
NM_005572.4:c.1406T>A MANE Plus Clinical NP_005563.1:p.Ile469Asn
NM_170708.4:c.1406T>A NP_733822.1:p.Ile469Asn