Canonical Allele Identifier: CA017128

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66817
• ClinVar RCV Id: RCV000057283 ; RCV000697969 ; RCV002381366 ; RCV001535753
• dbSNP Id: rs267607552
• MyVariant Identifiers: chr1:g.156106228G>A (hg19) ; chr1:g.156136437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136437G>A , CM000663.2:g.156136437G>A	GRCh38
NC_000001.10:g.156106228G>A , CM000663.1:g.156106228G>A	GRCh37
NC_000001.9:g.154372852G>A	NCBI36
NG_008692.2:g.58865G>A , LRG_254:g.58865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.822+1G>A	ENSP00000426535.3:n.822+1G>A
ENST00000459904.2:n.145G>A
ENST00000498722.3:n.612+1G>A
ENST00000682650.1:c.1380+1G>A	ENSP00000506904.1:n.1380+1G>A
ENST00000683032.1:c.1380+1G>A	ENSP00000506771.1:n.1380+1G>A
ENST00000684195.1:c.1380+1G>A	ENSP00000508220.1:n.1380+1G>A
ENST00000361308.9:c.1380+1G>A	ENSP00000355292.6:n.1380+1G>A
ENST00000368300.9:c.1380+1G>A MANE Select	ENSP00000357283.4:n.1380+1G>A
ENST00000496738.6:n.1755+1G>A
ENST00000674518.1:c.*730+1G>A	ENSP00000502261.1:n.*730+1G>A
ENST00000674600.1:c.*1179+1G>A	ENSP00000501666.1:n.*1179+1G>A
ENST00000674720.1:c.1381G>A	ENSP00000502798.1:p.Val461Ile
ENST00000675431.1:n.1073+1G>A
ENST00000675455.1:c.*1180+1G>A	ENSP00000501795.1:n.*1180+1G>A
ENST00000675667.1:c.1380+1G>A	ENSP00000501803.1:n.1380+1G>A
ENST00000675874.1:c.*851+1G>A	ENSP00000501851.1:n.*851+1G>A
ENST00000675881.1:c.*391+1G>A	ENSP00000501670.1:n.*391+1G>A
ENST00000675939.1:c.1380+1G>A	ENSP00000502256.1:n.1380+1G>A
ENST00000675989.1:n.1756G>A
ENST00000676208.1:c.*483+1G>A	ENSP00000502468.1:n.*483+1G>A
ENST00000676283.1:n.1755+1G>A
ENST00000676385.2:c.1380+1G>A	ENSP00000502091.1:n.1380+1G>A
ENST00000676434.1:c.*391+1G>A	ENSP00000501648.1:n.*391+1G>A
ENST00000677389.1:c.1380+1G>A MANE Plus Clinical	ENSP00000503633.1:n.1380+1G>A
ENST00000347559.6:c.1380+1G>A	ENSP00000292304.3:n.1380+1G>A
ENST00000361308.8:c.1311+70G>A	ENSP00000355292.5:n.1311+70G>A
ENST00000368297.5:c.1137+1G>A	ENSP00000357280.1:n.1137+1G>A
ENST00000368298.2:n.645G>A
ENST00000368299.7:c.1380+1G>A	ENSP00000357282.3:n.1380+1G>A
ENST00000368300.8:c.1380+1G>A	ENSP00000357283.4:n.1380+1G>A
ENST00000368301.6:c.1380+1G>A	ENSP00000357284.2:n.1380+1G>A
ENST00000448611.6:c.1044+1G>A	ENSP00000395597.2:n.1044+1G>A
ENST00000459904.1:n.145G>A
ENST00000473598.6:c.1083+1G>A	ENSP00000421821.1:n.1083+1G>A
ENST00000496738.5:n.765+1G>A
ENST00000498722.2:n.612+1G>A
ENST00000508500.1:c.258+1G>A	ENSP00000424977.1:n.258+1G>A
NM_001257374.2:c.1044+1G>A	NP_001244303.1:n.1044+1G>A
NM_001282624.1:c.1137+1G>A	NP_001269553.1:n.1137+1G>A
NM_001282625.1:c.1380+1G>A	NP_001269554.1:n.1380+1G>A
NM_001282626.1:c.1380+1G>A	NP_001269555.1:n.1380+1G>A
NM_005572.3:c.1380+1G>A , LRG_254t1:c.1380+1G>A	NP_005563.1:n.1380+1G>A
NM_170707.3:c.1380+1G>A	NP_733821.1:n.1380+1G>A
NM_170708.3:c.1380+1G>A	NP_733822.1:n.1380+1G>A
XM_011509533.1:c.1044+1G>A	XP_011507835.1:n.1044+1G>A
XM_011509534.1:c.756+1G>A	XP_011507836.1:n.756+1G>A
XR_921781.1:n.1669+1G>A
XM_011509534.2:c.756+1G>A	XP_011507836.1:n.756+1G>A
XR_921781.2:n.1667+1G>A
NM_170707.4:c.1380+1G>A MANE Select	NP_733821.1:n.1380+1G>A
NM_001257374.3:c.1044+1G>A	NP_001244303.1:n.1044+1G>A
NM_001282626.2:c.1380+1G>A	NP_001269555.1:n.1380+1G>A
NM_001282624.2:c.1137+1G>A	NP_001269553.1:n.1137+1G>A
NM_001282625.2:c.1380+1G>A	NP_001269554.1:n.1380+1G>A
NM_005572.4:c.1380+1G>A MANE Plus Clinical	NP_005563.1:n.1380+1G>A
NM_170708.4:c.1380+1G>A	NP_733822.1:n.1380+1G>A