Canonical Allele Identifier: CA017220

Gene: LMNA

Linked Data

• ClinVar Variation Id: 36476
• ClinVar RCV Id: RCV000030148 ; RCV000057294 ; RCV000154177 ; RCV000621248 ; RCV000653872
• dbSNP Id: rs267607578
• gnomAD v3: 1-156136952-G-A
• gnomAD v4: 1-156136952-G-A
• COSMIC: COSM4023184 ; COSM4023185
• MyVariant Identifiers: chr1:g.156106743G>A (hg19) ; chr1:g.156136952G>A (hg38)
• PubMed: PMID:18585512 ; PMID:18646565 ; PMID:19574635 ; PMID:20160190 ; PMID:22177269 ; PMID:22464770 ; PMID:23054336 ; PMID:23183350 ; PMID:23582089 ; PMID:24375749 ; PMID:24503780 ; PMID:24623722 ; PMID:24846508 ; PMID:25569433

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136952G>A , CM000663.2:g.156136952G>A	GRCh38
NC_000001.10:g.156106743G>A , CM000663.1:g.156106743G>A	GRCh37
NC_000001.9:g.154373367G>A	NCBI36
NG_008692.2:g.59380G>A , LRG_254:g.59380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.854G>A	ENSP00000426535.3:p.Arg285His
ENST00000459904.2:n.660G>A
ENST00000498722.3:n.644G>A
ENST00000682650.1:c.1412G>A	ENSP00000506904.1:p.Arg471His
ENST00000683032.1:c.1412G>A	ENSP00000506771.1:p.Arg471His
ENST00000684195.1:c.1412G>A	ENSP00000508220.1:p.Arg471His
ENST00000361308.9:c.1412G>A	ENSP00000355292.6:p.Arg471His
ENST00000368300.9:c.1412G>A MANE Select	ENSP00000357283.4:p.Arg471His
ENST00000496738.6:n.1787G>A
ENST00000674518.1:c.*762G>A	ENSP00000502261.1:n.*762G>A
ENST00000674600.1:c.*1211G>A	ENSP00000501666.1:n.*1211G>A
ENST00000674720.1:c.1525G>A	ENSP00000502798.1:p.Ala509Thr
ENST00000675431.1:n.1105G>A
ENST00000675455.1:c.*1212G>A	ENSP00000501795.1:n.*1212G>A
ENST00000675667.1:c.1412G>A	ENSP00000501803.1:p.Arg471His
ENST00000675874.1:c.*883G>A	ENSP00000501851.1:n.*883G>A
ENST00000675881.1:c.*423G>A	ENSP00000501670.1:n.*423G>A
ENST00000675939.1:c.1412G>A	ENSP00000502256.1:p.Arg471His
ENST00000675989.1:n.2271G>A
ENST00000676208.1:c.*515G>A	ENSP00000502468.1:n.*515G>A
ENST00000676283.1:n.1787G>A
ENST00000676385.2:c.1412G>A	ENSP00000502091.1:p.Arg471His
ENST00000676434.1:c.*423G>A	ENSP00000501648.1:n.*423G>A
ENST00000677389.1:c.1412G>A MANE Plus Clinical	ENSP00000503633.1:p.Arg471His
ENST00000347559.6:c.1412G>A	ENSP00000292304.3:p.Arg471His
ENST00000361308.8:c.1312-239G>A	ENSP00000355292.5:n.1312-239G>A
ENST00000368297.5:c.1169G>A	ENSP00000357280.1:p.Arg390His
ENST00000368298.2:n.1160G>A
ENST00000368299.7:c.1412G>A	ENSP00000357282.3:p.Arg471His
ENST00000368300.8:c.1412G>A	ENSP00000357283.4:p.Arg471His
ENST00000368301.6:c.1412G>A	ENSP00000357284.2:p.Arg471His
ENST00000448611.6:c.1076G>A	ENSP00000395597.2:p.Arg359His
ENST00000459904.1:n.660G>A
ENST00000473598.6:c.1115G>A	ENSP00000421821.1:p.Arg372His
ENST00000496738.5:n.797G>A
ENST00000498722.2:n.644G>A
ENST00000508500.1:c.290G>A	ENSP00000424977.1:p.Arg97His
NM_001257374.2:c.1076G>A	NP_001244303.1:p.Arg359His
NM_001282624.1:c.1169G>A	NP_001269553.1:p.Arg390His
NM_001282625.1:c.1412G>A	NP_001269554.1:p.Arg471His
NM_001282626.1:c.1412G>A	NP_001269555.1:p.Arg471His
NM_005572.3:c.1412G>A , LRG_254t1:c.1412G>A	NP_005563.1:p.Arg471His
NM_170707.3:c.1412G>A	NP_733821.1:p.Arg471His
NM_170708.3:c.1412G>A	NP_733822.1:p.Arg471His
XM_011509533.1:c.1076G>A	XP_011507835.1:p.Arg359His
XM_011509534.1:c.788G>A	XP_011507836.1:p.Arg263His
XR_921781.1:n.1701G>A
XM_011509534.2:c.788G>A	XP_011507836.1:p.Arg263His
XR_921781.2:n.1699G>A
NM_170707.4:c.1412G>A MANE Select	NP_733821.1:p.Arg471His
NM_001257374.3:c.1076G>A	NP_001244303.1:p.Arg359His
NM_001282626.2:c.1412G>A	NP_001269555.1:p.Arg471His
NM_001282624.2:c.1169G>A	NP_001269553.1:p.Arg390His
NM_001282625.2:c.1412G>A	NP_001269554.1:p.Arg471His
NM_005572.4:c.1412G>A MANE Plus Clinical	NP_005563.1:p.Arg471His
NM_170708.4:c.1412G>A	NP_733822.1:p.Arg471His