Canonical Allele Identifier: CA018517
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 200940
ClinVar RCV Id: RCV000182363
dbSNP Id: rs794728592

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134902A>G , CM000663.2:g.156134902A>G GRCh38
NC_000001.10:g.156104693A>G , CM000663.1:g.156104693A>G GRCh37
NC_000001.9:g.154371317A>G NCBI36
NG_008692.2:g.57330A>G , LRG_254:g.57330A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.179A>G ENSP00000426535.3:p.Gln60Arg
ENST00000682650.1:c.737A>G ENSP00000506904.1:p.Gln246Arg
ENST00000683032.1:c.737A>G ENSP00000506771.1:p.Gln246Arg
ENST00000684195.1:c.737A>G ENSP00000508220.1:p.Gln246Arg
ENST00000361308.9:c.737A>G ENSP00000355292.6:p.Gln246Arg
ENST00000368300.9:c.737A>G MANE Select ENSP00000357283.4:p.Gln246Arg
ENST00000496738.6:n.1112A>G
ENST00000504687.6:c.73A>G ENSP00000426535.2:p.Arg25Gly
ENST00000674518.1:c.*87A>G ENSP00000502261.1:n.*87A>G
ENST00000674600.1:c.*536A>G ENSP00000501666.1:n.*536A>G
ENST00000674720.1:c.737A>G ENSP00000502798.1:p.Gln246Arg
ENST00000675431.1:n.430A>G
ENST00000675455.1:c.*537A>G ENSP00000501795.1:n.*537A>G
ENST00000675667.1:c.737A>G ENSP00000501803.1:p.Gln246Arg
ENST00000675874.1:c.*208A>G ENSP00000501851.1:n.*208A>G
ENST00000675881.1:c.737A>G ENSP00000501670.1:p.Gln246Arg
ENST00000675939.1:c.737A>G ENSP00000502256.1:p.Gln246Arg
ENST00000675989.1:n.1112A>G
ENST00000676208.1:c.737A>G ENSP00000502468.1:p.Gln246Arg
ENST00000676283.1:n.1112A>G
ENST00000676385.2:c.737A>G ENSP00000502091.1:p.Gln246Arg
ENST00000676434.1:c.737A>G ENSP00000501648.1:p.Gln246Arg
ENST00000677389.1:c.737A>G MANE Plus Clinical ENSP00000503633.1:p.Gln246Arg
ENST00000347559.6:c.737A>G ENSP00000292304.3:p.Gln246Arg
ENST00000361308.8:c.737A>G ENSP00000355292.5:p.Gln246Arg
ENST00000368297.5:c.494A>G ENSP00000357280.1:p.Gln165Arg
ENST00000368299.7:c.737A>G ENSP00000357282.3:p.Gln246Arg
ENST00000368300.8:c.737A>G ENSP00000357283.4:p.Gln246Arg
ENST00000368301.6:c.737A>G ENSP00000357284.2:p.Gln246Arg
ENST00000448611.6:c.401A>G ENSP00000395597.2:p.Gln134Arg
ENST00000473598.6:c.440A>G ENSP00000421821.1:p.Gln147Arg
ENST00000496738.5:n.82A>G
ENST00000504687.5:c.488A>G ENSP00000426535.1:p.Gln163Arg
ENST00000515459.5:c.*411A>G ENSP00000424518.1:n.*411A>G
ENST00000515824.1:n.98A>G
NM_001257374.2:c.401A>G NP_001244303.1:p.Gln134Arg
NM_001282624.1:c.494A>G NP_001269553.1:p.Gln165Arg
NM_001282625.1:c.737A>G NP_001269554.1:p.Gln246Arg
NM_001282626.1:c.737A>G NP_001269555.1:p.Gln246Arg
NM_005572.3:c.737A>G , LRG_254t1:c.737A>G NP_005563.1:p.Gln246Arg
NM_170707.3:c.737A>G NP_733821.1:p.Gln246Arg
NM_170708.3:c.737A>G NP_733822.1:p.Gln246Arg
XM_011509533.1:c.401A>G XP_011507835.1:p.Gln134Arg
XM_011509534.1:c.73A>G XP_011507836.1:p.Arg25Gly
XR_921781.1:n.986A>G
XM_011509534.2:c.73A>G XP_011507836.1:p.Arg25Gly
XR_921781.2:n.984A>G
NM_170707.4:c.737A>G MANE Select NP_733821.1:p.Gln246Arg
NM_001257374.3:c.401A>G NP_001244303.1:p.Gln134Arg
NM_001282626.2:c.737A>G NP_001269555.1:p.Gln246Arg
NM_001282624.2:c.494A>G NP_001269553.1:p.Gln165Arg
NM_001282625.2:c.737A>G NP_001269554.1:p.Gln246Arg
NM_005572.4:c.737A>G MANE Plus Clinical NP_005563.1:p.Gln246Arg
NM_170708.4:c.737A>G NP_733822.1:p.Gln246Arg