Canonical Allele Identifier: CA342820609
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136105G>C , CM000663.2:g.156136105G>C GRCh38
NC_000001.10:g.156105896G>C , CM000663.1:g.156105896G>C GRCh37
NC_000001.9:g.154372520G>C NCBI36
NG_008692.2:g.58533G>C , LRG_254:g.58533G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.583G>C ENSP00000426535.3:p.Glu195Gln
ENST00000498722.3:n.373G>C
ENST00000682650.1:c.1141G>C ENSP00000506904.1:p.Glu381Gln
ENST00000683032.1:c.1141G>C ENSP00000506771.1:p.Glu381Gln
ENST00000684195.1:c.1141G>C ENSP00000508220.1:p.Glu381Gln
ENST00000361308.9:c.1141G>C ENSP00000355292.6:p.Glu381Gln
ENST00000368300.9:c.1141G>C MANE Select ENSP00000357283.4:p.Glu381Gln
ENST00000496738.6:n.1516G>C
ENST00000674518.1:c.*491G>C ENSP00000502261.1:n.*491G>C
ENST00000674600.1:c.*940G>C ENSP00000501666.1:n.*940G>C
ENST00000674720.1:c.1141G>C ENSP00000502798.1:p.Glu381Gln
ENST00000675431.1:n.834G>C
ENST00000675455.1:c.*941G>C ENSP00000501795.1:n.*941G>C
ENST00000675667.1:c.1141G>C ENSP00000501803.1:p.Glu381Gln
ENST00000675874.1:c.*612G>C ENSP00000501851.1:n.*612G>C
ENST00000675881.1:c.*152G>C ENSP00000501670.1:n.*152G>C
ENST00000675939.1:c.1141G>C ENSP00000502256.1:p.Glu381Gln
ENST00000675989.1:n.1516G>C
ENST00000676208.1:c.*152G>C ENSP00000502468.1:n.*152G>C
ENST00000676283.1:n.1516G>C
ENST00000676385.2:c.1141G>C ENSP00000502091.1:p.Glu381Gln
ENST00000676434.1:c.*152G>C ENSP00000501648.1:n.*152G>C
ENST00000677389.1:c.1141G>C MANE Plus Clinical ENSP00000503633.1:p.Glu381Gln
ENST00000347559.6:c.1141G>C ENSP00000292304.3:p.Glu381Gln
ENST00000361308.8:c.1141G>C ENSP00000355292.5:p.Glu381Gln
ENST00000368297.5:c.898G>C ENSP00000357280.1:p.Glu300Gln
ENST00000368298.2:n.405G>C
ENST00000368299.7:c.1141G>C ENSP00000357282.3:p.Glu381Gln
ENST00000368300.8:c.1141G>C ENSP00000357283.4:p.Glu381Gln
ENST00000368301.6:c.1141G>C ENSP00000357284.2:p.Glu381Gln
ENST00000448611.6:c.805G>C ENSP00000395597.2:p.Glu269Gln
ENST00000473598.6:c.844G>C ENSP00000421821.1:p.Glu282Gln
ENST00000496738.5:n.526G>C
ENST00000498722.2:n.373G>C
ENST00000508500.1:c.19G>C ENSP00000424977.1:p.Glu7Gln
NM_001257374.2:c.805G>C NP_001244303.1:p.Glu269Gln
NM_001282624.1:c.898G>C NP_001269553.1:p.Glu300Gln
NM_001282625.1:c.1141G>C NP_001269554.1:p.Glu381Gln
NM_001282626.1:c.1141G>C NP_001269555.1:p.Glu381Gln
NM_005572.3:c.1141G>C , LRG_254t1:c.1141G>C NP_005563.1:p.Glu381Gln
NM_170707.3:c.1141G>C NP_733821.1:p.Glu381Gln
NM_170708.3:c.1141G>C NP_733822.1:p.Glu381Gln
XM_011509533.1:c.805G>C XP_011507835.1:p.Glu269Gln
XM_011509534.1:c.517G>C XP_011507836.1:p.Glu173Gln
XR_921781.1:n.1430G>C
XM_011509534.2:c.517G>C XP_011507836.1:p.Glu173Gln
XR_921781.2:n.1428G>C
NM_170707.4:c.1141G>C MANE Select NP_733821.1:p.Glu381Gln
NM_001257374.3:c.805G>C NP_001244303.1:p.Glu269Gln
NM_001282626.2:c.1141G>C NP_001269555.1:p.Glu381Gln
NM_001282624.2:c.898G>C NP_001269553.1:p.Glu300Gln
NM_001282625.2:c.1141G>C NP_001269554.1:p.Glu381Gln
NM_005572.4:c.1141G>C MANE Plus Clinical NP_005563.1:p.Glu381Gln
NM_170708.4:c.1141G>C NP_733822.1:p.Glu381Gln