Canonical Allele Identifier: CA017938
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48061
dbSNP Id: rs267607646

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156115266dup , CM000663.2:g.156115266dup GRCh38
NC_000001.10:g.156085057dup , CM000663.1:g.156085057dup GRCh37
NC_000001.9:g.154351681dup NCBI36
NG_008692.2:g.37694dup , LRG_254:g.37694dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682650.1:c.348dup ENSP00000506904.1:p.Lys117GlufsTer10
ENST00000683032.1:c.348dup ENSP00000506771.1:p.Lys117GlufsTer10
ENST00000684195.1:c.348dup ENSP00000508220.1:p.Lys117GlufsTer10
ENST00000361308.9:c.348dup ENSP00000355292.6:p.Lys117GlufsTer10
ENST00000368300.9:c.348dup MANE Select ENSP00000357283.4:p.Lys117GlufsTer10
ENST00000496738.6:n.723dup
ENST00000674518.1:c.348dup ENSP00000502261.1:p.Lys117GlufsTer10
ENST00000674600.1:c.348dup ENSP00000501666.1:p.Lys117GlufsTer7
ENST00000674720.1:c.348dup ENSP00000502798.1:p.Lys117GlufsTer10
ENST00000675455.1:c.*148dup ENSP00000501795.1:n.*148dup
ENST00000675667.1:c.348dup ENSP00000501803.1:p.Lys117GlufsTer10
ENST00000675874.1:c.348dup ENSP00000501851.1:p.Lys117GlufsTer?
ENST00000675881.1:c.348dup ENSP00000501670.1:p.Lys117GlufsTer10
ENST00000675939.1:c.348dup ENSP00000502256.1:p.Lys117GlufsTer10
ENST00000675989.1:n.723dup
ENST00000676208.1:c.348dup ENSP00000502468.1:p.Lys117GlufsTer10
ENST00000676283.1:n.723dup
ENST00000676385.2:c.348dup ENSP00000502091.1:p.Lys117GlufsTer10
ENST00000676434.1:c.348dup ENSP00000501648.1:p.Lys117GlufsTer10
ENST00000677389.1:c.348dup MANE Plus Clinical ENSP00000503633.1:p.Lys117GlufsTer10
ENST00000347559.6:c.348dup ENSP00000292304.3:p.Lys117GlufsTer10
ENST00000361308.8:c.348dup ENSP00000355292.5:p.Lys117GlufsTer10
ENST00000368299.7:c.348dup ENSP00000357282.3:p.Lys117GlufsTer10
ENST00000368300.8:c.348dup ENSP00000357283.4:p.Lys117GlufsTer10
ENST00000368301.6:c.348dup ENSP00000357284.2:p.Lys117GlufsTer10
ENST00000469565.6:n.382dup
ENST00000470199.2:n.356+200dup
ENST00000502751.5:n.329-15351dup
NM_001282625.1:c.348dup NP_001269554.1:p.Lys117GlufsTer10
NM_001282626.1:c.348dup NP_001269555.1:p.Lys117GlufsTer10
NM_005572.3:c.348dup , LRG_254t1:c.348dup NP_005563.1:p.Lys117GlufsTer10
NM_170707.3:c.348dup NP_733821.1:p.Lys117GlufsTer10
NM_170708.3:c.348dup NP_733822.1:p.Lys117GlufsTer10
XR_921781.1:n.597dup
XR_921781.2:n.595dup
NM_170707.4:c.348dup MANE Select NP_733821.1:p.Lys117GlufsTer10
NM_001282626.2:c.348dup NP_001269555.1:p.Lys117GlufsTer10
NM_001282625.2:c.348dup NP_001269554.1:p.Lys117GlufsTer10
NM_005572.4:c.348dup MANE Plus Clinical NP_005563.1:p.Lys117GlufsTer10
NM_170708.4:c.348dup NP_733822.1:p.Lys117GlufsTer10