Canonical Allele Identifier: CA017588
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 66858
dbSNP Id: rs267607547

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137664T>C , CM000663.2:g.156137664T>C GRCh38
NC_000001.10:g.156107455T>C , CM000663.1:g.156107455T>C GRCh37
NC_000001.9:g.154374079T>C NCBI36
NG_008692.2:g.60092T>C , LRG_254:g.60092T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1061T>C ENSP00000426535.3:p.Met354Thr
ENST00000498722.3:n.851T>C
ENST00000682650.1:c.1608+432T>C ENSP00000506904.1:n.1608+432T>C
ENST00000683032.1:c.1619T>C ENSP00000506771.1:p.Met540Thr
ENST00000684195.1:c.1590T>C ENSP00000508220.1:p.His530=
ENST00000361308.9:c.1619T>C ENSP00000355292.6:p.Met540Thr
ENST00000368300.9:c.1619T>C MANE Select ENSP00000357283.4:p.Met540Thr
ENST00000496738.6:n.2078T>C
ENST00000674518.1:c.*969T>C ENSP00000502261.1:n.*969T>C
ENST00000674600.1:c.*1418T>C ENSP00000501666.1:n.*1418T>C
ENST00000674720.1:c.*181T>C ENSP00000502798.1:n.*181T>C
ENST00000675431.1:n.1312T>C
ENST00000675455.1:c.*1419T>C ENSP00000501795.1:n.*1419T>C
ENST00000675667.1:c.1619T>C ENSP00000501803.1:p.Met540Thr
ENST00000675874.1:c.*1090T>C ENSP00000501851.1:n.*1090T>C
ENST00000675881.1:c.*630T>C ENSP00000501670.1:n.*630T>C
ENST00000675939.1:c.1619T>C ENSP00000502256.1:p.Met540Thr
ENST00000675989.1:n.2478T>C
ENST00000676208.1:c.*722T>C ENSP00000502468.1:n.*722T>C
ENST00000676283.1:n.2415T>C
ENST00000676385.2:c.1608+432T>C ENSP00000502091.1:n.1608+432T>C
ENST00000676434.1:c.*630T>C ENSP00000501648.1:n.*630T>C
ENST00000677389.1:c.1619T>C MANE Plus Clinical ENSP00000503633.1:p.Met540Thr
ENST00000347559.6:c.1608+432T>C ENSP00000292304.3:n.1608+432T>C
ENST00000361308.8:c.1364T>C ENSP00000355292.5:p.Met455Thr
ENST00000368297.5:c.1376T>C ENSP00000357280.1:p.Met459Thr
ENST00000368299.7:c.1619T>C ENSP00000357282.3:p.Met540Thr
ENST00000368300.8:c.1619T>C ENSP00000357283.4:p.Met540Thr
ENST00000368301.6:c.1619T>C ENSP00000357284.2:p.Met540Thr
ENST00000448611.6:c.1283T>C ENSP00000395597.2:p.Met428Thr
ENST00000473598.6:c.1322T>C ENSP00000421821.1:p.Met441Thr
ENST00000496738.5:n.1088T>C
ENST00000498722.2:n.851T>C
ENST00000506981.1:n.203T>C
ENST00000508500.1:c.486+432T>C ENSP00000424977.1:n.486+432T>C
NM_001257374.2:c.1283T>C NP_001244303.1:p.Met428Thr
NM_001282624.1:c.1376T>C NP_001269553.1:p.Met459Thr
NM_001282625.1:c.1619T>C NP_001269554.1:p.Met540Thr
NM_001282626.1:c.1619T>C NP_001269555.1:p.Met540Thr
NM_005572.3:c.1619T>C , LRG_254t1:c.1619T>C NP_005563.1:p.Met540Thr
NM_170707.3:c.1619T>C NP_733821.1:p.Met540Thr
NM_170708.3:c.1608+432T>C NP_733822.1:n.1608+432T>C
XM_011509533.1:c.1283T>C XP_011507835.1:p.Met428Thr
XM_011509534.1:c.995T>C XP_011507836.1:p.Met332Thr
XR_921781.1:n.1908T>C
XM_011509534.2:c.995T>C XP_011507836.1:p.Met332Thr
XR_921781.2:n.1906T>C
NM_170707.4:c.1619T>C MANE Select NP_733821.1:p.Met540Thr
NM_001257374.3:c.1283T>C NP_001244303.1:p.Met428Thr
NM_001282626.2:c.1619T>C NP_001269555.1:p.Met540Thr
NM_001282624.2:c.1376T>C NP_001269553.1:p.Met459Thr
NM_001282625.2:c.1619T>C NP_001269554.1:p.Met540Thr
NM_005572.4:c.1619T>C MANE Plus Clinical NP_005563.1:p.Met540Thr
NM_170708.4:c.1608+432T>C NP_733822.1:n.1608+432T>C