Canonical Allele Identifier: CA342825442
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137679G>C , CM000663.2:g.156137679G>C GRCh38
NC_000001.10:g.156107470G>C , CM000663.1:g.156107470G>C GRCh37
NC_000001.9:g.154374094G>C NCBI36
NG_008692.2:g.60107G>C , LRG_254:g.60107G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1076G>C ENSP00000426535.3:p.Arg359Pro
ENST00000498722.3:n.866G>C
ENST00000682650.1:c.1608+447G>C ENSP00000506904.1:n.1608+447G>C
ENST00000683032.1:c.1634G>C ENSP00000506771.1:p.Arg545Pro
ENST00000684195.1:c.1605G>C ENSP00000508220.1:p.Ala535=
ENST00000361308.9:c.1634G>C ENSP00000355292.6:p.Arg545Pro
ENST00000368300.9:c.1634G>C MANE Select ENSP00000357283.4:p.Arg545Pro
ENST00000496738.6:n.2093G>C
ENST00000674518.1:c.*984G>C ENSP00000502261.1:n.*984G>C
ENST00000674600.1:c.*1433G>C ENSP00000501666.1:n.*1433G>C
ENST00000674720.1:c.*196G>C ENSP00000502798.1:n.*196G>C
ENST00000675431.1:n.1327G>C
ENST00000675455.1:c.*1434G>C ENSP00000501795.1:n.*1434G>C
ENST00000675667.1:c.1634G>C ENSP00000501803.1:p.Arg545Pro
ENST00000675874.1:c.*1105G>C ENSP00000501851.1:n.*1105G>C
ENST00000675881.1:c.*645G>C ENSP00000501670.1:n.*645G>C
ENST00000675939.1:c.1634G>C ENSP00000502256.1:p.Arg545Pro
ENST00000675989.1:n.2493G>C
ENST00000676208.1:c.*737G>C ENSP00000502468.1:n.*737G>C
ENST00000676283.1:n.2430G>C
ENST00000676385.2:c.1608+447G>C ENSP00000502091.1:n.1608+447G>C
ENST00000676434.1:c.*645G>C ENSP00000501648.1:n.*645G>C
ENST00000677389.1:c.1634G>C MANE Plus Clinical ENSP00000503633.1:p.Arg545Pro
ENST00000347559.6:c.1608+447G>C ENSP00000292304.3:n.1608+447G>C
ENST00000361308.8:c.1379G>C ENSP00000355292.5:p.Arg460Pro
ENST00000368297.5:c.1391G>C ENSP00000357280.1:p.Arg464Pro
ENST00000368299.7:c.1634G>C ENSP00000357282.3:p.Arg545Pro
ENST00000368300.8:c.1634G>C ENSP00000357283.4:p.Arg545Pro
ENST00000368301.6:c.1634G>C ENSP00000357284.2:p.Arg545Pro
ENST00000448611.6:c.1298G>C ENSP00000395597.2:p.Arg433Pro
ENST00000473598.6:c.1337G>C ENSP00000421821.1:p.Arg446Pro
ENST00000496738.5:n.1103G>C
ENST00000498722.2:n.866G>C
ENST00000506981.1:n.218G>C
ENST00000508500.1:c.486+447G>C ENSP00000424977.1:n.486+447G>C
NM_001257374.2:c.1298G>C NP_001244303.1:p.Arg433Pro
NM_001282624.1:c.1391G>C NP_001269553.1:p.Arg464Pro
NM_001282625.1:c.1634G>C NP_001269554.1:p.Arg545Pro
NM_001282626.1:c.1634G>C NP_001269555.1:p.Arg545Pro
NM_005572.3:c.1634G>C , LRG_254t1:c.1634G>C NP_005563.1:p.Arg545Pro
NM_170707.3:c.1634G>C NP_733821.1:p.Arg545Pro
NM_170708.3:c.1608+447G>C NP_733822.1:n.1608+447G>C
XM_011509533.1:c.1298G>C XP_011507835.1:p.Arg433Pro
XM_011509534.1:c.1010G>C XP_011507836.1:p.Arg337Pro
XR_921781.1:n.1923G>C
XM_011509534.2:c.1010G>C XP_011507836.1:p.Arg337Pro
XR_921781.2:n.1921G>C
NM_170707.4:c.1634G>C MANE Select NP_733821.1:p.Arg545Pro
NM_001257374.3:c.1298G>C NP_001244303.1:p.Arg433Pro
NM_001282626.2:c.1634G>C NP_001269555.1:p.Arg545Pro
NM_001282624.2:c.1391G>C NP_001269553.1:p.Arg464Pro
NM_001282625.2:c.1634G>C NP_001269554.1:p.Arg545Pro
NM_005572.4:c.1634G>C MANE Plus Clinical NP_005563.1:p.Arg545Pro
NM_170708.4:c.1608+447G>C NP_733822.1:n.1608+447G>C