Canonical Allele Identifier: CA017992

Gene: LMNA

Linked Data

• ClinVar Variation Id: 192190
• ClinVar RCV Id: RCV000172758 ; RCV000986428
• dbSNP Id: rs513043
• ExAC: 1:156099669 T / G
• gnomAD v2: 1-156099669-T-G
• gnomAD v3: 1-156129878-T-G
• gnomAD v4: 1-156129878-T-G
• MyVariant Identifiers: chr1:g.156099669T>G (hg19) ; chr1:g.156129878T>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156129878T>G , CM000663.2:g.156129878T>G	GRCh38
NC_000001.10:g.156099669T>G , CM000663.1:g.156099669T>G	GRCh37
NC_000001.9:g.154366293T>G	NCBI36
NG_008692.2:g.52306T>G , LRG_254:g.52306T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.-202-739T>G	ENSP00000426535.3:n.-202-739T>G
ENST00000682650.1:c.357-739T>G	ENSP00000506904.1:n.357-739T>G
ENST00000683032.1:c.357-739T>G	ENSP00000506771.1:n.357-739T>G
ENST00000684195.1:c.357-739T>G	ENSP00000508220.1:n.357-739T>G
ENST00000361308.9:c.357-739T>G	ENSP00000355292.6:n.357-739T>G
ENST00000368300.9:c.357-739T>G MANE Select	ENSP00000357283.4:n.357-739T>G
ENST00000496738.6:n.732-739T>G
ENST00000504687.6:c.-308-739T>G	ENSP00000426535.2:n.-308-739T>G
ENST00000674518.1:c.357-739T>G	ENSP00000502261.1:n.357-739T>G
ENST00000674600.1:c.*156-739T>G	ENSP00000501666.1:n.*156-739T>G
ENST00000674720.1:c.357-739T>G	ENSP00000502798.1:n.357-739T>G
ENST00000675431.1:n.50-739T>G
ENST00000675455.1:c.*157-739T>G	ENSP00000501795.1:n.*157-739T>G
ENST00000675667.1:c.357-739T>G	ENSP00000501803.1:n.357-739T>G
ENST00000675874.1:c.357-4525T>G	ENSP00000501851.1:n.357-4525T>G
ENST00000675881.1:c.357-739T>G	ENSP00000501670.1:n.357-739T>G
ENST00000675939.1:c.357-739T>G	ENSP00000502256.1:n.357-739T>G
ENST00000675989.1:n.732-739T>G
ENST00000676208.1:c.357-739T>G	ENSP00000502468.1:n.357-739T>G
ENST00000676283.1:n.732-739T>G
ENST00000676385.2:c.357-739T>G	ENSP00000502091.1:n.357-739T>G
ENST00000676434.1:c.357-739T>G	ENSP00000501648.1:n.357-739T>G
ENST00000677389.1:c.357-739T>G MANE Plus Clinical	ENSP00000503633.1:n.357-739T>G
ENST00000347559.6:c.357-739T>G	ENSP00000292304.3:n.357-739T>G
ENST00000361308.8:c.357-739T>G	ENSP00000355292.5:n.357-739T>G
ENST00000368297.5:c.114-739T>G	ENSP00000357280.1:n.114-739T>G
ENST00000368299.7:c.357-739T>G	ENSP00000357282.3:n.357-739T>G
ENST00000368300.8:c.357-739T>G	ENSP00000357283.4:n.357-739T>G
ENST00000368301.6:c.357-739T>G	ENSP00000357284.2:n.357-739T>G
ENST00000448611.6:c.21-739T>G	ENSP00000395597.2:n.21-739T>G
ENST00000469565.6:n.391-739T>G
ENST00000470199.2:n.357-797T>G
ENST00000473598.6:c.29T>G	ENSP00000421821.1:p.Leu10Arg
ENST00000502357.5:n.255-739T>G
ENST00000502751.5:n.329-739T>G
ENST00000504687.5:c.108-739T>G	ENSP00000426535.1:n.108-739T>G
ENST00000515459.5:c.*31-739T>G	ENSP00000424518.1:n.*31-739T>G
NM_001257374.2:c.21-739T>G	NP_001244303.1:n.21-739T>G
NM_001282624.1:c.114-739T>G	NP_001269553.1:n.114-739T>G
NM_001282625.1:c.357-739T>G	NP_001269554.1:n.357-739T>G
NM_001282626.1:c.357-739T>G	NP_001269555.1:n.357-739T>G
NM_005572.3:c.357-739T>G , LRG_254t1:c.357-739T>G	NP_005563.1:n.357-739T>G
NM_170707.3:c.357-739T>G	NP_733821.1:n.357-739T>G
NM_170708.3:c.357-739T>G	NP_733822.1:n.357-739T>G
XM_011509533.1:c.21-739T>G	XP_011507835.1:n.21-739T>G
XR_921781.1:n.606-739T>G
XM_011509534.2:c.-308-739T>G	XP_011507836.1:n.-308-739T>G
XR_921781.2:n.604-739T>G
NM_170707.4:c.357-739T>G MANE Select	NP_733821.1:n.357-739T>G
NM_001257374.3:c.21-739T>G	NP_001244303.1:n.21-739T>G
NM_001282626.2:c.357-739T>G	NP_001269555.1:n.357-739T>G
NM_001282624.2:c.114-739T>G	NP_001269553.1:n.114-739T>G
NM_001282625.2:c.357-739T>G	NP_001269554.1:n.357-739T>G
NM_005572.4:c.357-739T>G MANE Plus Clinical	NP_005563.1:n.357-739T>G
NM_170708.4:c.357-739T>G	NP_733822.1:n.357-739T>G