Canonical Allele Identifier: CA018552

Gene: LMNA

Linked Data

• ClinVar Variation Id: 48077
• ClinVar RCV Id: RCV000041362 ; RCV000818791
• dbSNP Id: rs121912496
• MyVariant Identifiers: chr1:g.156104701C>G (hg19) ; chr1:g.156134910C>G (hg38)
• PubMed: PMID:10739764 ; PMID:10939567 ; PMID:11503164 ; PMID:12032588 ; PMID:14684700 ; PMID:18551513 ; PMID:18564364 ; PMID:20848652 ; PMID:20886652 ; PMID:21632249

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134910C>G , CM000663.2:g.156134910C>G	GRCh38
NC_000001.10:g.156104701C>G , CM000663.1:g.156104701C>G	GRCh37
NC_000001.9:g.154371325C>G	NCBI36
NG_008692.2:g.57338C>G , LRG_254:g.57338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.187C>G	ENSP00000426535.3:p.Arg63Gly
ENST00000682650.1:c.745C>G	ENSP00000506904.1:p.Arg249Gly
ENST00000683032.1:c.745C>G	ENSP00000506771.1:p.Arg249Gly
ENST00000684195.1:c.745C>G	ENSP00000508220.1:p.Arg249Gly
ENST00000361308.9:c.745C>G	ENSP00000355292.6:p.Arg249Gly
ENST00000368300.9:c.745C>G MANE Select	ENSP00000357283.4:p.Arg249Gly
ENST00000496738.6:n.1120C>G
ENST00000504687.6:c.81C>G	ENSP00000426535.2:p.Cys27Trp
ENST00000674518.1:c.*95C>G	ENSP00000502261.1:n.*95C>G
ENST00000674600.1:c.*544C>G	ENSP00000501666.1:n.*544C>G
ENST00000674720.1:c.745C>G	ENSP00000502798.1:p.Arg249Gly
ENST00000675431.1:n.438C>G
ENST00000675455.1:c.*545C>G	ENSP00000501795.1:n.*545C>G
ENST00000675667.1:c.745C>G	ENSP00000501803.1:p.Arg249Gly
ENST00000675874.1:c.*216C>G	ENSP00000501851.1:n.*216C>G
ENST00000675881.1:c.745C>G	ENSP00000501670.1:p.Arg249Gly
ENST00000675939.1:c.745C>G	ENSP00000502256.1:p.Arg249Gly
ENST00000675989.1:n.1120C>G
ENST00000676208.1:c.745C>G	ENSP00000502468.1:p.Arg249Gly
ENST00000676283.1:n.1120C>G
ENST00000676385.2:c.745C>G	ENSP00000502091.1:p.Arg249Gly
ENST00000676434.1:c.745C>G	ENSP00000501648.1:p.Arg249Gly
ENST00000677389.1:c.745C>G MANE Plus Clinical	ENSP00000503633.1:p.Arg249Gly
ENST00000347559.6:c.745C>G	ENSP00000292304.3:p.Arg249Gly
ENST00000361308.8:c.745C>G	ENSP00000355292.5:p.Arg249Gly
ENST00000368297.5:c.502C>G	ENSP00000357280.1:p.Arg168Gly
ENST00000368299.7:c.745C>G	ENSP00000357282.3:p.Arg249Gly
ENST00000368300.8:c.745C>G	ENSP00000357283.4:p.Arg249Gly
ENST00000368301.6:c.745C>G	ENSP00000357284.2:p.Arg249Gly
ENST00000448611.6:c.409C>G	ENSP00000395597.2:p.Arg137Gly
ENST00000473598.6:c.448C>G	ENSP00000421821.1:p.Arg150Gly
ENST00000496738.5:n.90C>G
ENST00000504687.5:c.496C>G	ENSP00000426535.1:p.Arg166Gly
ENST00000515459.5:c.*419C>G	ENSP00000424518.1:n.*419C>G
ENST00000515824.1:n.106C>G
NM_001257374.2:c.409C>G	NP_001244303.1:p.Arg137Gly
NM_001282624.1:c.502C>G	NP_001269553.1:p.Arg168Gly
NM_001282625.1:c.745C>G	NP_001269554.1:p.Arg249Gly
NM_001282626.1:c.745C>G	NP_001269555.1:p.Arg249Gly
NM_005572.3:c.745C>G , LRG_254t1:c.745C>G	NP_005563.1:p.Arg249Gly
NM_170707.3:c.745C>G	NP_733821.1:p.Arg249Gly
NM_170708.3:c.745C>G	NP_733822.1:p.Arg249Gly
XM_011509533.1:c.409C>G	XP_011507835.1:p.Arg137Gly
XM_011509534.1:c.81C>G	XP_011507836.1:p.Cys27Trp
XR_921781.1:n.994C>G
XM_011509534.2:c.81C>G	XP_011507836.1:p.Cys27Trp
XR_921781.2:n.992C>G
NM_170707.4:c.745C>G MANE Select	NP_733821.1:p.Arg249Gly
NM_001257374.3:c.409C>G	NP_001244303.1:p.Arg137Gly
NM_001282626.2:c.745C>G	NP_001269555.1:p.Arg249Gly
NM_001282624.2:c.502C>G	NP_001269553.1:p.Arg168Gly
NM_001282625.2:c.745C>G	NP_001269554.1:p.Arg249Gly
NM_005572.4:c.745C>G MANE Plus Clinical	NP_005563.1:p.Arg249Gly
NM_170708.4:c.745C>G	NP_733822.1:p.Arg249Gly