Canonical Allele Identifier: CA915941468

Gene: LMNA

Linked Data

• ClinVar Variation Id: 640296
• ClinVar RCV Id: RCV000793293
• dbSNP Id: rs1572367812

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137702dup , CM000663.2:g.156137702dup	GRCh38
NC_000001.10:g.156107493dup , CM000663.1:g.156107493dup	GRCh37
NC_000001.9:g.154374117dup	NCBI36
NG_008692.2:g.60130dup , LRG_254:g.60130dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1099dup	ENSP00000426535.3:p.Asp367GlyfsTer4
ENST00000498722.3:n.889dup
ENST00000682650.1:c.1608+470dup	ENSP00000506904.1:n.1608+470dup
ENST00000683032.1:c.1657dup	ENSP00000506771.1:p.Asp553GlyfsTer4
ENST00000683773.1:n.2dup
ENST00000684195.1:c.*5dup	ENSP00000508220.1:n.*5dup
ENST00000361308.9:c.1657dup	ENSP00000355292.6:p.Asp553GlyfsTer4
ENST00000368300.9:c.1657dup MANE Select	ENSP00000357283.4:p.Asp553GlyfsTer4
ENST00000496738.6:n.2116dup
ENST00000674518.1:c.*1007dup	ENSP00000502261.1:n.*1007dup
ENST00000674600.1:c.*1456dup	ENSP00000501666.1:n.*1456dup
ENST00000674720.1:c.*219dup	ENSP00000502798.1:n.*219dup
ENST00000675431.1:n.1350dup
ENST00000675455.1:c.*1457dup	ENSP00000501795.1:n.*1457dup
ENST00000675667.1:c.1657dup	ENSP00000501803.1:p.Asp553GlyfsTer4
ENST00000675874.1:c.*1128dup	ENSP00000501851.1:n.*1128dup
ENST00000675881.1:c.*668dup	ENSP00000501670.1:n.*668dup
ENST00000675939.1:c.1657dup	ENSP00000502256.1:p.Asp553GlyfsTer4
ENST00000675989.1:n.2516dup
ENST00000676208.1:c.*760dup	ENSP00000502468.1:n.*760dup
ENST00000676283.1:n.2453dup
ENST00000676385.2:c.1608+470dup	ENSP00000502091.1:n.1608+470dup
ENST00000676434.1:c.*668dup	ENSP00000501648.1:n.*668dup
ENST00000677389.1:c.1657dup MANE Plus Clinical	ENSP00000503633.1:p.Asp553GlyfsTer4
ENST00000347559.6:c.1608+470dup	ENSP00000292304.3:n.1608+470dup
ENST00000361308.8:c.1402dup	ENSP00000355292.5:p.Asp468GlyfsTer4
ENST00000368297.5:c.1414dup	ENSP00000357280.1:p.Asp472GlyfsTer4
ENST00000368299.7:c.1657dup	ENSP00000357282.3:p.Asp553GlyfsTer4
ENST00000368300.8:c.1657dup	ENSP00000357283.4:p.Asp553GlyfsTer4
ENST00000368301.6:c.1657dup	ENSP00000357284.2:p.Asp553GlyfsTer4
ENST00000448611.6:c.1321dup	ENSP00000395597.2:p.Asp441GlyfsTer4
ENST00000473598.6:c.1360dup	ENSP00000421821.1:p.Asp454GlyfsTer4
ENST00000496738.5:n.1126dup
ENST00000498722.2:n.889dup
ENST00000506981.1:n.241dup
ENST00000508500.1:c.486+470dup	ENSP00000424977.1:n.486+470dup
NM_001257374.2:c.1321dup	NP_001244303.1:p.Asp441GlyfsTer4
NM_001282624.1:c.1414dup	NP_001269553.1:p.Asp472GlyfsTer4
NM_001282625.1:c.1657dup	NP_001269554.1:p.Asp553GlyfsTer4
NM_001282626.1:c.1657dup	NP_001269555.1:p.Asp553GlyfsTer4
NM_005572.3:c.1657dup , LRG_254t1:c.1657dup	NP_005563.1:p.Asp553GlyfsTer4
NM_170707.3:c.1657dup	NP_733821.1:p.Asp553GlyfsTer4
NM_170708.3:c.1608+470dup	NP_733822.1:n.1608+470dup
XM_011509533.1:c.1321dup	XP_011507835.1:p.Asp441GlyfsTer4
XM_011509534.1:c.1033dup	XP_011507836.1:p.Asp345GlyfsTer4
XR_921781.1:n.1946dup
XM_011509534.2:c.1033dup	XP_011507836.1:p.Asp345GlyfsTer4
XR_921781.2:n.1944dup
NM_170707.4:c.1657dup MANE Select	NP_733821.1:p.Asp553GlyfsTer4
NM_001257374.3:c.1321dup	NP_001244303.1:p.Asp441GlyfsTer4
NM_001282626.2:c.1657dup	NP_001269555.1:p.Asp553GlyfsTer4
NM_001282624.2:c.1414dup	NP_001269553.1:p.Asp472GlyfsTer4
NM_001282625.2:c.1657dup	NP_001269554.1:p.Asp553GlyfsTer4
NM_005572.4:c.1657dup MANE Plus Clinical	NP_005563.1:p.Asp553GlyfsTer4
NM_170708.4:c.1608+470dup	NP_733822.1:n.1608+470dup