Canonical Allele Identifier: CA088193
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 222692
dbSNP Id: rs58917027

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130708A>G , CM000663.2:g.156130708A>G GRCh38
NC_000001.10:g.156100499A>G , CM000663.1:g.156100499A>G GRCh37
NC_000001.9:g.154367123A>G NCBI36
NG_008692.2:g.53136A>G , LRG_254:g.53136A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.-111A>G ENSP00000426535.3:n.-111A>G
ENST00000682650.1:c.448A>G ENSP00000506904.1:p.Thr150Ala
ENST00000683032.1:c.448A>G ENSP00000506771.1:p.Thr150Ala
ENST00000684195.1:c.448A>G ENSP00000508220.1:p.Thr150Ala
ENST00000361308.9:c.448A>G ENSP00000355292.6:p.Thr150Ala
ENST00000368300.9:c.448A>G MANE Select ENSP00000357283.4:p.Thr150Ala
ENST00000496738.6:n.823A>G
ENST00000504687.6:c.-217A>G ENSP00000426535.2:n.-217A>G
ENST00000674518.1:c.448A>G ENSP00000502261.1:p.Thr150Ala
ENST00000674600.1:c.*247A>G ENSP00000501666.1:n.*247A>G
ENST00000674720.1:c.448A>G ENSP00000502798.1:p.Thr150Ala
ENST00000675431.1:n.141A>G
ENST00000675455.1:c.*248A>G ENSP00000501795.1:n.*248A>G
ENST00000675667.1:c.448A>G ENSP00000501803.1:p.Thr150Ala
ENST00000675874.1:c.357-3695A>G ENSP00000501851.1:n.357-3695A>G
ENST00000675881.1:c.448A>G ENSP00000501670.1:p.Thr150Ala
ENST00000675939.1:c.448A>G ENSP00000502256.1:p.Thr150Ala
ENST00000675989.1:n.823A>G
ENST00000676208.1:c.448A>G ENSP00000502468.1:p.Thr150Ala
ENST00000676283.1:n.823A>G
ENST00000676385.2:c.448A>G ENSP00000502091.1:p.Thr150Ala
ENST00000676434.1:c.448A>G ENSP00000501648.1:p.Thr150Ala
ENST00000677389.1:c.448A>G MANE Plus Clinical ENSP00000503633.1:p.Thr150Ala
ENST00000347559.6:c.448A>G ENSP00000292304.3:p.Thr150Ala
ENST00000361308.8:c.448A>G ENSP00000355292.5:p.Thr150Ala
ENST00000368297.5:c.205A>G ENSP00000357280.1:p.Thr69Ala
ENST00000368299.7:c.448A>G ENSP00000357282.3:p.Thr150Ala
ENST00000368300.8:c.448A>G ENSP00000357283.4:p.Thr150Ala
ENST00000368301.6:c.448A>G ENSP00000357284.2:p.Thr150Ala
ENST00000448611.6:c.112A>G ENSP00000395597.2:p.Thr38Ala
ENST00000469565.6:n.482A>G
ENST00000470199.2:n.390A>G
ENST00000473598.6:c.151A>G ENSP00000421821.1:p.Thr51Ala
ENST00000502357.5:n.346A>G
ENST00000502751.5:n.420A>G
ENST00000504687.5:c.199A>G ENSP00000426535.1:p.Thr67Ala
ENST00000515459.5:c.*122A>G ENSP00000424518.1:n.*122A>G
NM_001257374.2:c.112A>G NP_001244303.1:p.Thr38Ala
NM_001282624.1:c.205A>G NP_001269553.1:p.Thr69Ala
NM_001282625.1:c.448A>G NP_001269554.1:p.Thr150Ala
NM_001282626.1:c.448A>G NP_001269555.1:p.Thr150Ala
NM_005572.3:c.448A>G , LRG_254t1:c.448A>G NP_005563.1:p.Thr150Ala
NM_170707.3:c.448A>G NP_733821.1:p.Thr150Ala
NM_170708.3:c.448A>G NP_733822.1:p.Thr150Ala
XM_011509533.1:c.112A>G XP_011507835.1:p.Thr38Ala
XM_011509534.1:c.-217A>G XP_011507836.1:n.-217A>G
XR_921781.1:n.697A>G
XM_011509534.2:c.-217A>G XP_011507836.1:n.-217A>G
XR_921781.2:n.695A>G
NM_170707.4:c.448A>G MANE Select NP_733821.1:p.Thr150Ala
NM_001257374.3:c.112A>G NP_001244303.1:p.Thr38Ala
NM_001282626.2:c.448A>G NP_001269555.1:p.Thr150Ala
NM_001282624.2:c.205A>G NP_001269553.1:p.Thr69Ala
NM_001282625.2:c.448A>G NP_001269554.1:p.Thr150Ala
NM_005572.4:c.448A>G MANE Plus Clinical NP_005563.1:p.Thr150Ala
NM_170708.4:c.448A>G NP_733822.1:p.Thr150Ala