Canonical Allele Identifier: CA017154

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66819
• ClinVar RCV Id: RCV000057286 ; RCV001060202 ; RCV001182565 ; RCV003996504 ; RCV002498332
• dbSNP Id: rs267607642
• ExAC: 1:156106712 G / T
• gnomAD v2: 1-156106712-G-T
• gnomAD v4: 1-156136921-G-T
• MyVariant Identifiers: chr1:g.156106712G>T (hg19) ; chr1:g.156136921G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136921G>T , CM000663.2:g.156136921G>T	GRCh38
NC_000001.10:g.156106712G>T , CM000663.1:g.156106712G>T	GRCh37
NC_000001.9:g.154373336G>T	NCBI36
NG_008692.2:g.59349G>T , LRG_254:g.59349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.823G>T	ENSP00000426535.3:p.Asp275Tyr
ENST00000459904.2:n.629G>T
ENST00000498722.3:n.613G>T
ENST00000682650.1:c.1381G>T	ENSP00000506904.1:p.Asp461Tyr
ENST00000683032.1:c.1381G>T	ENSP00000506771.1:p.Asp461Tyr
ENST00000684195.1:c.1381G>T	ENSP00000508220.1:p.Asp461Tyr
ENST00000361308.9:c.1381G>T	ENSP00000355292.6:p.Asp461Tyr
ENST00000368300.9:c.1381G>T MANE Select	ENSP00000357283.4:p.Asp461Tyr
ENST00000496738.6:n.1756G>T
ENST00000674518.1:c.*731G>T	ENSP00000502261.1:n.*731G>T
ENST00000674600.1:c.*1180G>T	ENSP00000501666.1:n.*1180G>T
ENST00000674720.1:c.1494G>T	ENSP00000502798.1:p.Gly498=
ENST00000675431.1:n.1074G>T
ENST00000675455.1:c.*1181G>T	ENSP00000501795.1:n.*1181G>T
ENST00000675667.1:c.1381G>T	ENSP00000501803.1:p.Asp461Tyr
ENST00000675874.1:c.*852G>T	ENSP00000501851.1:n.*852G>T
ENST00000675881.1:c.*392G>T	ENSP00000501670.1:n.*392G>T
ENST00000675939.1:c.1381G>T	ENSP00000502256.1:p.Asp461Tyr
ENST00000675989.1:n.2240G>T
ENST00000676208.1:c.*484G>T	ENSP00000502468.1:n.*484G>T
ENST00000676283.1:n.1756G>T
ENST00000676385.2:c.1381G>T	ENSP00000502091.1:p.Asp461Tyr
ENST00000676434.1:c.*392G>T	ENSP00000501648.1:n.*392G>T
ENST00000677389.1:c.1381G>T MANE Plus Clinical	ENSP00000503633.1:p.Asp461Tyr
ENST00000347559.6:c.1381G>T	ENSP00000292304.3:p.Asp461Tyr
ENST00000361308.8:c.1312-270G>T	ENSP00000355292.5:n.1312-270G>T
ENST00000368297.5:c.1138G>T	ENSP00000357280.1:p.Asp380Tyr
ENST00000368298.2:n.1129G>T
ENST00000368299.7:c.1381G>T	ENSP00000357282.3:p.Asp461Tyr
ENST00000368300.8:c.1381G>T	ENSP00000357283.4:p.Asp461Tyr
ENST00000368301.6:c.1381G>T	ENSP00000357284.2:p.Asp461Tyr
ENST00000448611.6:c.1045G>T	ENSP00000395597.2:p.Asp349Tyr
ENST00000459904.1:n.629G>T
ENST00000473598.6:c.1084G>T	ENSP00000421821.1:p.Asp362Tyr
ENST00000496738.5:n.766G>T
ENST00000498722.2:n.613G>T
ENST00000508500.1:c.259G>T	ENSP00000424977.1:p.Asp87Tyr
NM_001257374.2:c.1045G>T	NP_001244303.1:p.Asp349Tyr
NM_001282624.1:c.1138G>T	NP_001269553.1:p.Asp380Tyr
NM_001282625.1:c.1381G>T	NP_001269554.1:p.Asp461Tyr
NM_001282626.1:c.1381G>T	NP_001269555.1:p.Asp461Tyr
NM_005572.3:c.1381G>T , LRG_254t1:c.1381G>T	NP_005563.1:p.Asp461Tyr
NM_170707.3:c.1381G>T	NP_733821.1:p.Asp461Tyr
NM_170708.3:c.1381G>T	NP_733822.1:p.Asp461Tyr
XM_011509533.1:c.1045G>T	XP_011507835.1:p.Asp349Tyr
XM_011509534.1:c.757G>T	XP_011507836.1:p.Asp253Tyr
XR_921781.1:n.1670G>T
XM_011509534.2:c.757G>T	XP_011507836.1:p.Asp253Tyr
XR_921781.2:n.1668G>T
NM_170707.4:c.1381G>T MANE Select	NP_733821.1:p.Asp461Tyr
NM_001257374.3:c.1045G>T	NP_001244303.1:p.Asp349Tyr
NM_001282626.2:c.1381G>T	NP_001269555.1:p.Asp461Tyr
NM_001282624.2:c.1138G>T	NP_001269553.1:p.Asp380Tyr
NM_001282625.2:c.1381G>T	NP_001269554.1:p.Asp461Tyr
NM_005572.4:c.1381G>T MANE Plus Clinical	NP_005563.1:p.Asp461Tyr
NM_170708.4:c.1381G>T	NP_733822.1:p.Asp461Tyr