Canonical Allele Identifier: CA342815188

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1929643
• ClinVar RCV Id: RCV002626392
• gnomAD v4: 1-156130660-C-G
• MyVariant Identifiers: chr1:g.156100451C>G (hg19) ; chr1:g.156130660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130660C>G , CM000663.2:g.156130660C>G	GRCh38
NC_000001.10:g.156100451C>G , CM000663.1:g.156100451C>G	GRCh37
NC_000001.9:g.154367075C>G	NCBI36
NG_008692.2:g.53088C>G , LRG_254:g.53088C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-159C>G	ENSP00000426535.3:n.-159C>G
ENST00000682650.1:c.400C>G	ENSP00000506904.1:p.Leu134Val
ENST00000683032.1:c.400C>G	ENSP00000506771.1:p.Leu134Val
ENST00000684195.1:c.400C>G	ENSP00000508220.1:p.Leu134Val
ENST00000361308.9:c.400C>G	ENSP00000355292.6:p.Leu134Val
ENST00000368300.9:c.400C>G MANE Select	ENSP00000357283.4:p.Leu134Val
ENST00000496738.6:n.775C>G
ENST00000504687.6:c.-265C>G	ENSP00000426535.2:n.-265C>G
ENST00000674518.1:c.400C>G	ENSP00000502261.1:p.Leu134Val
ENST00000674600.1:c.*199C>G	ENSP00000501666.1:n.*199C>G
ENST00000674720.1:c.400C>G	ENSP00000502798.1:p.Leu134Val
ENST00000675431.1:n.93C>G
ENST00000675455.1:c.*200C>G	ENSP00000501795.1:n.*200C>G
ENST00000675667.1:c.400C>G	ENSP00000501803.1:p.Leu134Val
ENST00000675874.1:c.357-3743C>G	ENSP00000501851.1:n.357-3743C>G
ENST00000675881.1:c.400C>G	ENSP00000501670.1:p.Leu134Val
ENST00000675939.1:c.400C>G	ENSP00000502256.1:p.Leu134Val
ENST00000675989.1:n.775C>G
ENST00000676208.1:c.400C>G	ENSP00000502468.1:p.Leu134Val
ENST00000676283.1:n.775C>G
ENST00000676385.2:c.400C>G	ENSP00000502091.1:p.Leu134Val
ENST00000676434.1:c.400C>G	ENSP00000501648.1:p.Leu134Val
ENST00000677389.1:c.400C>G MANE Plus Clinical	ENSP00000503633.1:p.Leu134Val
ENST00000347559.6:c.400C>G	ENSP00000292304.3:p.Leu134Val
ENST00000361308.8:c.400C>G	ENSP00000355292.5:p.Leu134Val
ENST00000368297.5:c.157C>G	ENSP00000357280.1:p.Leu53Val
ENST00000368299.7:c.400C>G	ENSP00000357282.3:p.Leu134Val
ENST00000368300.8:c.400C>G	ENSP00000357283.4:p.Leu134Val
ENST00000368301.6:c.400C>G	ENSP00000357284.2:p.Leu134Val
ENST00000448611.6:c.64C>G	ENSP00000395597.2:p.Leu22Val
ENST00000469565.6:n.434C>G
ENST00000470199.2:n.357-15C>G
ENST00000473598.6:c.103C>G	ENSP00000421821.1:p.Leu35Val
ENST00000502357.5:n.298C>G
ENST00000502751.5:n.372C>G
ENST00000504687.5:c.151C>G	ENSP00000426535.1:p.Leu51Val
ENST00000515459.5:c.*74C>G	ENSP00000424518.1:n.*74C>G
NM_001257374.2:c.64C>G	NP_001244303.1:p.Leu22Val
NM_001282624.1:c.157C>G	NP_001269553.1:p.Leu53Val
NM_001282625.1:c.400C>G	NP_001269554.1:p.Leu134Val
NM_001282626.1:c.400C>G	NP_001269555.1:p.Leu134Val
NM_005572.3:c.400C>G , LRG_254t1:c.400C>G	NP_005563.1:p.Leu134Val
NM_170707.3:c.400C>G	NP_733821.1:p.Leu134Val
NM_170708.3:c.400C>G	NP_733822.1:p.Leu134Val
XM_011509533.1:c.64C>G	XP_011507835.1:p.Leu22Val
XM_011509534.1:c.-265C>G	XP_011507836.1:n.-265C>G
XR_921781.1:n.649C>G
XM_011509534.2:c.-265C>G	XP_011507836.1:n.-265C>G
XR_921781.2:n.647C>G
NM_170707.4:c.400C>G MANE Select	NP_733821.1:p.Leu134Val
NM_001257374.3:c.64C>G	NP_001244303.1:p.Leu22Val
NM_001282626.2:c.400C>G	NP_001269555.1:p.Leu134Val
NM_001282624.2:c.157C>G	NP_001269553.1:p.Leu53Val
NM_001282625.2:c.400C>G	NP_001269554.1:p.Leu134Val
NM_005572.4:c.400C>G MANE Plus Clinical	NP_005563.1:p.Leu134Val
NM_170708.4:c.400C>G	NP_733822.1:p.Leu134Val