Canonical Allele Identifier: CA342820658
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136115A>C , CM000663.2:g.156136115A>C GRCh38
NC_000001.10:g.156105906A>C , CM000663.1:g.156105906A>C GRCh37
NC_000001.9:g.154372530A>C NCBI36
NG_008692.2:g.58543A>C , LRG_254:g.58543A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.593A>C ENSP00000426535.3:p.Glu198Ala
ENST00000498722.3:n.383A>C
ENST00000682650.1:c.1151A>C ENSP00000506904.1:p.Glu384Ala
ENST00000683032.1:c.1151A>C ENSP00000506771.1:p.Glu384Ala
ENST00000684195.1:c.1151A>C ENSP00000508220.1:p.Glu384Ala
ENST00000361308.9:c.1151A>C ENSP00000355292.6:p.Glu384Ala
ENST00000368300.9:c.1151A>C MANE Select ENSP00000357283.4:p.Glu384Ala
ENST00000496738.6:n.1526A>C
ENST00000674518.1:c.*501A>C ENSP00000502261.1:n.*501A>C
ENST00000674600.1:c.*950A>C ENSP00000501666.1:n.*950A>C
ENST00000674720.1:c.1151A>C ENSP00000502798.1:p.Glu384Ala
ENST00000675431.1:n.844A>C
ENST00000675455.1:c.*951A>C ENSP00000501795.1:n.*951A>C
ENST00000675667.1:c.1151A>C ENSP00000501803.1:p.Glu384Ala
ENST00000675874.1:c.*622A>C ENSP00000501851.1:n.*622A>C
ENST00000675881.1:c.*162A>C ENSP00000501670.1:n.*162A>C
ENST00000675939.1:c.1151A>C ENSP00000502256.1:p.Glu384Ala
ENST00000675989.1:n.1526A>C
ENST00000676208.1:c.*162A>C ENSP00000502468.1:n.*162A>C
ENST00000676283.1:n.1526A>C
ENST00000676385.2:c.1151A>C ENSP00000502091.1:p.Glu384Ala
ENST00000676434.1:c.*162A>C ENSP00000501648.1:n.*162A>C
ENST00000677389.1:c.1151A>C MANE Plus Clinical ENSP00000503633.1:p.Glu384Ala
ENST00000347559.6:c.1151A>C ENSP00000292304.3:p.Glu384Ala
ENST00000361308.8:c.1151A>C ENSP00000355292.5:p.Glu384Ala
ENST00000368297.5:c.908A>C ENSP00000357280.1:p.Glu303Ala
ENST00000368298.2:n.415A>C
ENST00000368299.7:c.1151A>C ENSP00000357282.3:p.Glu384Ala
ENST00000368300.8:c.1151A>C ENSP00000357283.4:p.Glu384Ala
ENST00000368301.6:c.1151A>C ENSP00000357284.2:p.Glu384Ala
ENST00000448611.6:c.815A>C ENSP00000395597.2:p.Glu272Ala
ENST00000473598.6:c.854A>C ENSP00000421821.1:p.Glu285Ala
ENST00000496738.5:n.536A>C
ENST00000498722.2:n.383A>C
ENST00000508500.1:c.29A>C ENSP00000424977.1:p.Glu10Ala
NM_001257374.2:c.815A>C NP_001244303.1:p.Glu272Ala
NM_001282624.1:c.908A>C NP_001269553.1:p.Glu303Ala
NM_001282625.1:c.1151A>C NP_001269554.1:p.Glu384Ala
NM_001282626.1:c.1151A>C NP_001269555.1:p.Glu384Ala
NM_005572.3:c.1151A>C , LRG_254t1:c.1151A>C NP_005563.1:p.Glu384Ala
NM_170707.3:c.1151A>C NP_733821.1:p.Glu384Ala
NM_170708.3:c.1151A>C NP_733822.1:p.Glu384Ala
XM_011509533.1:c.815A>C XP_011507835.1:p.Glu272Ala
XM_011509534.1:c.527A>C XP_011507836.1:p.Glu176Ala
XR_921781.1:n.1440A>C
XM_011509534.2:c.527A>C XP_011507836.1:p.Glu176Ala
XR_921781.2:n.1438A>C
NM_170707.4:c.1151A>C MANE Select NP_733821.1:p.Glu384Ala
NM_001257374.3:c.815A>C NP_001244303.1:p.Glu272Ala
NM_001282626.2:c.1151A>C NP_001269555.1:p.Glu384Ala
NM_001282624.2:c.908A>C NP_001269553.1:p.Glu303Ala
NM_001282625.2:c.1151A>C NP_001269554.1:p.Glu384Ala
NM_005572.4:c.1151A>C MANE Plus Clinical NP_005563.1:p.Glu384Ala
NM_170708.4:c.1151A>C NP_733822.1:p.Glu384Ala