Canonical Allele Identifier: CA018942

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66963
• ClinVar RCV Id: RCV000057496 ; RCV003581578
• dbSNP Id: rs59301204
• MyVariant Identifiers: chr1:g.156105747G>C (hg19) ; chr1:g.156135956G>C (hg38)
• PubMed: PMID:17377071 ; PMID:19875404

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135956G>C , CM000663.2:g.156135956G>C	GRCh38
NC_000001.10:g.156105747G>C , CM000663.1:g.156105747G>C	GRCh37
NC_000001.9:g.154372371G>C	NCBI36
NG_008692.2:g.58384G>C , LRG_254:g.58384G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.434G>C	ENSP00000426535.3:p.Arg145Pro
ENST00000498722.3:n.224G>C
ENST00000682650.1:c.992G>C	ENSP00000506904.1:p.Arg331Pro
ENST00000683032.1:c.992G>C	ENSP00000506771.1:p.Arg331Pro
ENST00000684195.1:c.992G>C	ENSP00000508220.1:p.Arg331Pro
ENST00000361308.9:c.992G>C	ENSP00000355292.6:p.Arg331Pro
ENST00000368300.9:c.992G>C MANE Select	ENSP00000357283.4:p.Arg331Pro
ENST00000496738.6:n.1367G>C
ENST00000674518.1:c.*342G>C	ENSP00000502261.1:n.*342G>C
ENST00000674600.1:c.*791G>C	ENSP00000501666.1:n.*791G>C
ENST00000674720.1:c.992G>C	ENSP00000502798.1:p.Arg331Pro
ENST00000675431.1:n.685G>C
ENST00000675455.1:c.*792G>C	ENSP00000501795.1:n.*792G>C
ENST00000675667.1:c.992G>C	ENSP00000501803.1:p.Arg331Pro
ENST00000675874.1:c.*463G>C	ENSP00000501851.1:n.*463G>C
ENST00000675881.1:c.*3G>C	ENSP00000501670.1:n.*3G>C
ENST00000675939.1:c.992G>C	ENSP00000502256.1:p.Arg331Pro
ENST00000675989.1:n.1367G>C
ENST00000676208.1:c.*3G>C	ENSP00000502468.1:n.*3G>C
ENST00000676283.1:n.1367G>C
ENST00000676385.2:c.992G>C	ENSP00000502091.1:p.Arg331Pro
ENST00000676434.1:c.*3G>C	ENSP00000501648.1:n.*3G>C
ENST00000677389.1:c.992G>C MANE Plus Clinical	ENSP00000503633.1:p.Arg331Pro
ENST00000347559.6:c.992G>C	ENSP00000292304.3:p.Arg331Pro
ENST00000361308.8:c.992G>C	ENSP00000355292.5:p.Arg331Pro
ENST00000368297.5:c.749G>C	ENSP00000357280.1:p.Arg250Pro
ENST00000368298.2:n.256G>C
ENST00000368299.7:c.992G>C	ENSP00000357282.3:p.Arg331Pro
ENST00000368300.8:c.992G>C	ENSP00000357283.4:p.Arg331Pro
ENST00000368301.6:c.992G>C	ENSP00000357284.2:p.Arg331Pro
ENST00000448611.6:c.656G>C	ENSP00000395597.2:p.Arg219Pro
ENST00000473598.6:c.695G>C	ENSP00000421821.1:p.Arg232Pro
ENST00000496738.5:n.377G>C
ENST00000498722.2:n.224G>C
NM_001257374.2:c.656G>C	NP_001244303.1:p.Arg219Pro
NM_001282624.1:c.749G>C	NP_001269553.1:p.Arg250Pro
NM_001282625.1:c.992G>C	NP_001269554.1:p.Arg331Pro
NM_001282626.1:c.992G>C	NP_001269555.1:p.Arg331Pro
NM_005572.3:c.992G>C , LRG_254t1:c.992G>C	NP_005563.1:p.Arg331Pro
NM_170707.3:c.992G>C	NP_733821.1:p.Arg331Pro
NM_170708.3:c.992G>C	NP_733822.1:p.Arg331Pro
XM_011509533.1:c.656G>C	XP_011507835.1:p.Arg219Pro
XM_011509534.1:c.368G>C	XP_011507836.1:p.Arg123Pro
XR_921781.1:n.1281G>C
XM_011509534.2:c.368G>C	XP_011507836.1:p.Arg123Pro
XR_921781.2:n.1279G>C
NM_170707.4:c.992G>C MANE Select	NP_733821.1:p.Arg331Pro
NM_001257374.3:c.656G>C	NP_001244303.1:p.Arg219Pro
NM_001282626.2:c.992G>C	NP_001269555.1:p.Arg331Pro
NM_001282624.2:c.749G>C	NP_001269553.1:p.Arg250Pro
NM_001282625.2:c.992G>C	NP_001269554.1:p.Arg331Pro
NM_005572.4:c.992G>C MANE Plus Clinical	NP_005563.1:p.Arg331Pro
NM_170708.4:c.992G>C	NP_733822.1:p.Arg331Pro