Canonical Allele Identifier: CA048908
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1390332
ClinVar RCV Id: RCV001890946
dbSNP Id: rs267607617

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136027C>G , CM000663.2:g.156136027C>G GRCh38
NC_000001.10:g.156105818C>G , CM000663.1:g.156105818C>G GRCh37
NC_000001.9:g.154372442C>G NCBI36
NG_008692.2:g.58455C>G , LRG_254:g.58455C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.505C>G ENSP00000426535.3:p.Gln169Glu
ENST00000498722.3:n.295C>G
ENST00000682650.1:c.1063C>G ENSP00000506904.1:p.Gln355Glu
ENST00000683032.1:c.1063C>G ENSP00000506771.1:p.Gln355Glu
ENST00000684195.1:c.1063C>G ENSP00000508220.1:p.Gln355Glu
ENST00000361308.9:c.1063C>G ENSP00000355292.6:p.Gln355Glu
ENST00000368300.9:c.1063C>G MANE Select ENSP00000357283.4:p.Gln355Glu
ENST00000496738.6:n.1438C>G
ENST00000674518.1:c.*413C>G ENSP00000502261.1:n.*413C>G
ENST00000674600.1:c.*862C>G ENSP00000501666.1:n.*862C>G
ENST00000674720.1:c.1063C>G ENSP00000502798.1:p.Gln355Glu
ENST00000675431.1:n.756C>G
ENST00000675455.1:c.*863C>G ENSP00000501795.1:n.*863C>G
ENST00000675667.1:c.1063C>G ENSP00000501803.1:p.Gln355Glu
ENST00000675874.1:c.*534C>G ENSP00000501851.1:n.*534C>G
ENST00000675881.1:c.*74C>G ENSP00000501670.1:n.*74C>G
ENST00000675939.1:c.1063C>G ENSP00000502256.1:p.Gln355Glu
ENST00000675989.1:n.1438C>G
ENST00000676208.1:c.*74C>G ENSP00000502468.1:n.*74C>G
ENST00000676283.1:n.1438C>G
ENST00000676385.2:c.1063C>G ENSP00000502091.1:p.Gln355Glu
ENST00000676434.1:c.*74C>G ENSP00000501648.1:n.*74C>G
ENST00000677389.1:c.1063C>G MANE Plus Clinical ENSP00000503633.1:p.Gln355Glu
ENST00000347559.6:c.1063C>G ENSP00000292304.3:p.Gln355Glu
ENST00000361308.8:c.1063C>G ENSP00000355292.5:p.Gln355Glu
ENST00000368297.5:c.820C>G ENSP00000357280.1:p.Gln274Glu
ENST00000368298.2:n.327C>G
ENST00000368299.7:c.1063C>G ENSP00000357282.3:p.Gln355Glu
ENST00000368300.8:c.1063C>G ENSP00000357283.4:p.Gln355Glu
ENST00000368301.6:c.1063C>G ENSP00000357284.2:p.Gln355Glu
ENST00000448611.6:c.727C>G ENSP00000395597.2:p.Gln243Glu
ENST00000473598.6:c.766C>G ENSP00000421821.1:p.Gln256Glu
ENST00000496738.5:n.448C>G
ENST00000498722.2:n.295C>G
NM_001257374.2:c.727C>G NP_001244303.1:p.Gln243Glu
NM_001282624.1:c.820C>G NP_001269553.1:p.Gln274Glu
NM_001282625.1:c.1063C>G NP_001269554.1:p.Gln355Glu
NM_001282626.1:c.1063C>G NP_001269555.1:p.Gln355Glu
NM_005572.3:c.1063C>G , LRG_254t1:c.1063C>G NP_005563.1:p.Gln355Glu
NM_170707.3:c.1063C>G NP_733821.1:p.Gln355Glu
NM_170708.3:c.1063C>G NP_733822.1:p.Gln355Glu
XM_011509533.1:c.727C>G XP_011507835.1:p.Gln243Glu
XM_011509534.1:c.439C>G XP_011507836.1:p.Gln147Glu
XR_921781.1:n.1352C>G
XM_011509534.2:c.439C>G XP_011507836.1:p.Gln147Glu
XR_921781.2:n.1350C>G
NM_170707.4:c.1063C>G MANE Select NP_733821.1:p.Gln355Glu
NM_001257374.3:c.727C>G NP_001244303.1:p.Gln243Glu
NM_001282626.2:c.1063C>G NP_001269555.1:p.Gln355Glu
NM_001282624.2:c.820C>G NP_001269553.1:p.Gln274Glu
NM_001282625.2:c.1063C>G NP_001269554.1:p.Gln355Glu
NM_005572.4:c.1063C>G MANE Plus Clinical NP_005563.1:p.Gln355Glu
NM_170708.4:c.1063C>G NP_733822.1:p.Gln355Glu