Canonical Allele Identifier: CA053745

Gene: LMNA

Linked Data

• ClinVar Variation Id: 392479
• ClinVar RCV Id: RCV000426904 ; RCV001184318 ; RCV002480327 ; RCV004000578 ; RCV004022516 ; RCV001594396 ; RCV001865396
• dbSNP Id: rs766856162
• ExAC: 1:156104246 G / A
• gnomAD v2: 1-156104246-G-A
• gnomAD v3: 1-156134455-G-A
• gnomAD v4: 1-156134455-G-A
• MyVariant Identifiers: chr1:g.156104246G>A (hg19) ; chr1:g.156134455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134455G>A , CM000663.2:g.156134455G>A	GRCh38
NC_000001.10:g.156104246G>A , CM000663.1:g.156104246G>A	GRCh37
NC_000001.9:g.154370870G>A	NCBI36
NG_008692.2:g.56883G>A , LRG_254:g.56883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.8G>A	ENSP00000426535.3:p.Arg3Gln
ENST00000682650.1:c.566G>A	ENSP00000506904.1:p.Arg189Gln
ENST00000683032.1:c.566G>A	ENSP00000506771.1:p.Arg189Gln
ENST00000684195.1:c.566G>A	ENSP00000508220.1:p.Arg189Gln
ENST00000361308.9:c.566G>A	ENSP00000355292.6:p.Arg189Gln
ENST00000368300.9:c.566G>A MANE Select	ENSP00000357283.4:p.Arg189Gln
ENST00000496738.6:n.941G>A
ENST00000504687.6:c.-99G>A	ENSP00000426535.2:n.-99G>A
ENST00000674518.1:c.566G>A	ENSP00000502261.1:p.Arg189Gln
ENST00000674600.1:c.*365G>A	ENSP00000501666.1:n.*365G>A
ENST00000674720.1:c.566G>A	ENSP00000502798.1:p.Arg189Gln
ENST00000675431.1:n.259G>A
ENST00000675455.1:c.*366G>A	ENSP00000501795.1:n.*366G>A
ENST00000675667.1:c.566G>A	ENSP00000501803.1:p.Arg189Gln
ENST00000675874.1:c.*37G>A	ENSP00000501851.1:n.*37G>A
ENST00000675881.1:c.566G>A	ENSP00000501670.1:p.Arg189Gln
ENST00000675939.1:c.566G>A	ENSP00000502256.1:p.Arg189Gln
ENST00000675989.1:n.941G>A
ENST00000676208.1:c.566G>A	ENSP00000502468.1:p.Arg189Gln
ENST00000676283.1:n.941G>A
ENST00000676385.2:c.566G>A	ENSP00000502091.1:p.Arg189Gln
ENST00000676434.1:c.566G>A	ENSP00000501648.1:p.Arg189Gln
ENST00000677389.1:c.566G>A MANE Plus Clinical	ENSP00000503633.1:p.Arg189Gln
ENST00000347559.6:c.566G>A	ENSP00000292304.3:p.Arg189Gln
ENST00000361308.8:c.566G>A	ENSP00000355292.5:p.Arg189Gln
ENST00000368297.5:c.323G>A	ENSP00000357280.1:p.Arg108Gln
ENST00000368299.7:c.566G>A	ENSP00000357282.3:p.Arg189Gln
ENST00000368300.8:c.566G>A	ENSP00000357283.4:p.Arg189Gln
ENST00000368301.6:c.566G>A	ENSP00000357284.2:p.Arg189Gln
ENST00000448611.6:c.230G>A	ENSP00000395597.2:p.Arg77Gln
ENST00000470199.2:n.508G>A
ENST00000473598.6:c.269G>A	ENSP00000421821.1:p.Arg90Gln
ENST00000502357.5:n.464G>A
ENST00000502751.5:n.538G>A
ENST00000504687.5:c.317G>A	ENSP00000426535.1:p.Arg106Gln
ENST00000515459.5:c.*240G>A	ENSP00000424518.1:n.*240G>A
NM_001257374.2:c.230G>A	NP_001244303.1:p.Arg77Gln
NM_001282624.1:c.323G>A	NP_001269553.1:p.Arg108Gln
NM_001282625.1:c.566G>A	NP_001269554.1:p.Arg189Gln
NM_001282626.1:c.566G>A	NP_001269555.1:p.Arg189Gln
NM_005572.3:c.566G>A , LRG_254t1:c.566G>A	NP_005563.1:p.Arg189Gln
NM_170707.3:c.566G>A	NP_733821.1:p.Arg189Gln
NM_170708.3:c.566G>A	NP_733822.1:p.Arg189Gln
XM_011509533.1:c.230G>A	XP_011507835.1:p.Arg77Gln
XM_011509534.1:c.-99G>A	XP_011507836.1:n.-99G>A
XR_921781.1:n.815G>A
XM_011509534.2:c.-99G>A	XP_011507836.1:n.-99G>A
XR_921781.2:n.813G>A
NM_170707.4:c.566G>A MANE Select	NP_733821.1:p.Arg189Gln
NM_001257374.3:c.230G>A	NP_001244303.1:p.Arg77Gln
NM_001282626.2:c.566G>A	NP_001269555.1:p.Arg189Gln
NM_001282624.2:c.323G>A	NP_001269553.1:p.Arg108Gln
NM_001282625.2:c.566G>A	NP_001269554.1:p.Arg189Gln
NM_005572.4:c.566G>A MANE Plus Clinical	NP_005563.1:p.Arg189Gln
NM_170708.4:c.566G>A	NP_733822.1:p.Arg189Gln