Canonical Allele Identifier: CA014814

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14486
• ClinVar RCV Id: RCV000015575 ; RCV000041318 ; RCV000057299 ; RCV000190399 ; RCV000459624 ; RCV000754814 ; RCV000763258 ; RCV001179839 ; RCV001822996 ; RCV002390111 ; RCV004532361
• dbSNP Id: rs11575937
• ExAC: 1:156106776 G / A
• gnomAD v2: 1-156106776-G-A
• gnomAD v3: 1-156136985-G-A
• gnomAD v4: 1-156136985-G-A
• MyVariant Identifiers: chr1:g.156106776G>A (hg19) ; chr1:g.156136985G>A (hg38)
• PubMed: PMID:10587585 ; PMID:10655060 ; PMID:10739751 ; PMID:10810087 ; PMID:10868844 ; PMID:10999791 ; PMID:10999845 ; PMID:11078466 ; PMID:11136544 ; PMID:11792809 ; PMID:16181372 ; PMID:16415042 ; PMID:18728124 ; PMID:19011997 ; PMID:19201734 ; PMID:22700598 ; PMID:23313286 ; PMID:23427149 ; PMID:26662654

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136985G>A , CM000663.2:g.156136985G>A	GRCh38
NC_000001.10:g.156106776G>A , CM000663.1:g.156106776G>A	GRCh37
NC_000001.9:g.154373400G>A	NCBI36
NG_008692.2:g.59413G>A , LRG_254:g.59413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.887G>A	ENSP00000426535.3:p.Arg296Gln
ENST00000459904.2:n.693G>A
ENST00000498722.3:n.677G>A
ENST00000682650.1:c.1445G>A	ENSP00000506904.1:p.Arg482Gln
ENST00000683032.1:c.1445G>A	ENSP00000506771.1:p.Arg482Gln
ENST00000684195.1:c.1445G>A	ENSP00000508220.1:p.Arg482Gln
ENST00000361308.9:c.1445G>A	ENSP00000355292.6:p.Arg482Gln
ENST00000368300.9:c.1445G>A MANE Select	ENSP00000357283.4:p.Arg482Gln
ENST00000496738.6:n.1820G>A
ENST00000674518.1:c.*795G>A	ENSP00000502261.1:n.*795G>A
ENST00000674600.1:c.*1244G>A	ENSP00000501666.1:n.*1244G>A
ENST00000674720.1:c.*7G>A	ENSP00000502798.1:n.*7G>A
ENST00000675431.1:n.1138G>A
ENST00000675455.1:c.*1245G>A	ENSP00000501795.1:n.*1245G>A
ENST00000675667.1:c.1445G>A	ENSP00000501803.1:p.Arg482Gln
ENST00000675874.1:c.*916G>A	ENSP00000501851.1:n.*916G>A
ENST00000675881.1:c.*456G>A	ENSP00000501670.1:n.*456G>A
ENST00000675939.1:c.1445G>A	ENSP00000502256.1:p.Arg482Gln
ENST00000675989.1:n.2304G>A
ENST00000676208.1:c.*548G>A	ENSP00000502468.1:n.*548G>A
ENST00000676283.1:n.1820G>A
ENST00000676385.2:c.1445G>A	ENSP00000502091.1:p.Arg482Gln
ENST00000676434.1:c.*456G>A	ENSP00000501648.1:n.*456G>A
ENST00000677389.1:c.1445G>A MANE Plus Clinical	ENSP00000503633.1:p.Arg482Gln
ENST00000347559.6:c.1445G>A	ENSP00000292304.3:p.Arg482Gln
ENST00000361308.8:c.1312-206G>A	ENSP00000355292.5:n.1312-206G>A
ENST00000368297.5:c.1202G>A	ENSP00000357280.1:p.Arg401Gln
ENST00000368298.2:n.1193G>A
ENST00000368299.7:c.1445G>A	ENSP00000357282.3:p.Arg482Gln
ENST00000368300.8:c.1445G>A	ENSP00000357283.4:p.Arg482Gln
ENST00000368301.6:c.1445G>A	ENSP00000357284.2:p.Arg482Gln
ENST00000448611.6:c.1109G>A	ENSP00000395597.2:p.Arg370Gln
ENST00000459904.1:n.693G>A
ENST00000473598.6:c.1148G>A	ENSP00000421821.1:p.Arg383Gln
ENST00000496738.5:n.830G>A
ENST00000498722.2:n.677G>A
ENST00000508500.1:c.323G>A	ENSP00000424977.1:p.Arg108Gln
NM_001257374.2:c.1109G>A	NP_001244303.1:p.Arg370Gln
NM_001282624.1:c.1202G>A	NP_001269553.1:p.Arg401Gln
NM_001282625.1:c.1445G>A	NP_001269554.1:p.Arg482Gln
NM_001282626.1:c.1445G>A	NP_001269555.1:p.Arg482Gln
NM_005572.3:c.1445G>A , LRG_254t1:c.1445G>A	NP_005563.1:p.Arg482Gln
NM_170707.3:c.1445G>A	NP_733821.1:p.Arg482Gln
NM_170708.3:c.1445G>A	NP_733822.1:p.Arg482Gln
XM_011509533.1:c.1109G>A	XP_011507835.1:p.Arg370Gln
XM_011509534.1:c.821G>A	XP_011507836.1:p.Arg274Gln
XR_921781.1:n.1734G>A
XM_011509534.2:c.821G>A	XP_011507836.1:p.Arg274Gln
XR_921781.2:n.1732G>A
NM_170707.4:c.1445G>A MANE Select	NP_733821.1:p.Arg482Gln
NM_001257374.3:c.1109G>A	NP_001244303.1:p.Arg370Gln
NM_001282626.2:c.1445G>A	NP_001269555.1:p.Arg482Gln
NM_001282624.2:c.1202G>A	NP_001269553.1:p.Arg401Gln
NM_001282625.2:c.1445G>A	NP_001269554.1:p.Arg482Gln
NM_005572.4:c.1445G>A MANE Plus Clinical	NP_005563.1:p.Arg482Gln
NM_170708.4:c.1445G>A	NP_733822.1:p.Arg482Gln