Canonical Allele Identifier: CA017498

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14481
• ClinVar RCV Id: RCV000015569 ; RCV000015570 ; RCV000700159 ; RCV000057327 ; RCV001375641 ; RCV004018633
• dbSNP Id: rs57520892
• MyVariant Identifiers: chr1:g.156106995G>C (hg19) ; chr1:g.156137204G>C (hg38)
• PubMed: PMID:10080180 ; PMID:12196663 ; PMID:19084400

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137204G>C , CM000663.2:g.156137204G>C	GRCh38
NC_000001.10:g.156106995G>C , CM000663.1:g.156106995G>C	GRCh37
NC_000001.9:g.154373619G>C	NCBI36
NG_008692.2:g.59632G>C , LRG_254:g.59632G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1022G>C	ENSP00000426535.3:p.Arg341Pro
ENST00000459904.2:n.828G>C
ENST00000498722.3:n.812G>C
ENST00000682650.1:c.1580G>C	ENSP00000506904.1:p.Arg527Pro
ENST00000683032.1:c.1580G>C	ENSP00000506771.1:p.Arg527Pro
ENST00000684195.1:c.1579+1G>C	ENSP00000508220.1:n.1579+1G>C
ENST00000361308.9:c.1580G>C	ENSP00000355292.6:p.Arg527Pro
ENST00000368300.9:c.1580G>C MANE Select	ENSP00000357283.4:p.Arg527Pro
ENST00000496738.6:n.2039G>C
ENST00000674518.1:c.*930G>C	ENSP00000502261.1:n.*930G>C
ENST00000674600.1:c.*1379G>C	ENSP00000501666.1:n.*1379G>C
ENST00000674720.1:c.*142G>C	ENSP00000502798.1:n.*142G>C
ENST00000675431.1:n.1273G>C
ENST00000675455.1:c.*1380G>C	ENSP00000501795.1:n.*1380G>C
ENST00000675667.1:c.1580G>C	ENSP00000501803.1:p.Arg527Pro
ENST00000675874.1:c.*1051G>C	ENSP00000501851.1:n.*1051G>C
ENST00000675881.1:c.*591G>C	ENSP00000501670.1:n.*591G>C
ENST00000675939.1:c.1580G>C	ENSP00000502256.1:p.Arg527Pro
ENST00000675989.1:n.2439G>C
ENST00000676208.1:c.*683G>C	ENSP00000502468.1:n.*683G>C
ENST00000676283.1:n.1955G>C
ENST00000676385.2:c.1580G>C	ENSP00000502091.1:p.Arg527Pro
ENST00000676434.1:c.*591G>C	ENSP00000501648.1:n.*591G>C
ENST00000677389.1:c.1580G>C MANE Plus Clinical	ENSP00000503633.1:p.Arg527Pro
ENST00000347559.6:c.1580G>C	ENSP00000292304.3:p.Arg527Pro
ENST00000361308.8:c.1325G>C	ENSP00000355292.5:p.Arg442Pro
ENST00000368297.5:c.1337G>C	ENSP00000357280.1:p.Arg446Pro
ENST00000368298.2:n.1412G>C
ENST00000368299.7:c.1580G>C	ENSP00000357282.3:p.Arg527Pro
ENST00000368300.8:c.1580G>C	ENSP00000357283.4:p.Arg527Pro
ENST00000368301.6:c.1580G>C	ENSP00000357284.2:p.Arg527Pro
ENST00000448611.6:c.1244G>C	ENSP00000395597.2:p.Arg415Pro
ENST00000459904.1:n.828G>C
ENST00000473598.6:c.1283G>C	ENSP00000421821.1:p.Arg428Pro
ENST00000496738.5:n.1049G>C
ENST00000498722.2:n.812G>C
ENST00000508500.1:c.458G>C	ENSP00000424977.1:p.Arg153Pro
NM_001257374.2:c.1244G>C	NP_001244303.1:p.Arg415Pro
NM_001282624.1:c.1337G>C	NP_001269553.1:p.Arg446Pro
NM_001282625.1:c.1580G>C	NP_001269554.1:p.Arg527Pro
NM_001282626.1:c.1580G>C	NP_001269555.1:p.Arg527Pro
NM_005572.3:c.1580G>C , LRG_254t1:c.1580G>C	NP_005563.1:p.Arg527Pro
NM_170707.3:c.1580G>C	NP_733821.1:p.Arg527Pro
NM_170708.3:c.1580G>C	NP_733822.1:p.Arg527Pro
XM_011509533.1:c.1244G>C	XP_011507835.1:p.Arg415Pro
XM_011509534.1:c.956G>C	XP_011507836.1:p.Arg319Pro
XR_921781.1:n.1869G>C
XM_011509534.2:c.956G>C	XP_011507836.1:p.Arg319Pro
XR_921781.2:n.1867G>C
NM_170707.4:c.1580G>C MANE Select	NP_733821.1:p.Arg527Pro
NM_001257374.3:c.1244G>C	NP_001244303.1:p.Arg415Pro
NM_001282626.2:c.1580G>C	NP_001269555.1:p.Arg527Pro
NM_001282624.2:c.1337G>C	NP_001269553.1:p.Arg446Pro
NM_001282625.2:c.1580G>C	NP_001269554.1:p.Arg527Pro
NM_005572.4:c.1580G>C MANE Plus Clinical	NP_005563.1:p.Arg527Pro
NM_170708.4:c.1580G>C	NP_733822.1:p.Arg527Pro