Canonical Allele Identifier: CA342820198

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2199046
• ClinVar RCV Id: RCV002634077
• gnomAD v4: 1-156135980-C-T
• COSMIC: COSM5052637 ; COSM5052638
• MyVariant Identifiers: chr1:g.156105771C>T (hg19) ; chr1:g.156135980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135980C>T , CM000663.2:g.156135980C>T	GRCh38
NC_000001.10:g.156105771C>T , CM000663.1:g.156105771C>T	GRCh37
NC_000001.9:g.154372395C>T	NCBI36
NG_008692.2:g.58408C>T , LRG_254:g.58408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.458C>T	ENSP00000426535.3:p.Ala153Val
ENST00000498722.3:n.248C>T
ENST00000682650.1:c.1016C>T	ENSP00000506904.1:p.Ala339Val
ENST00000683032.1:c.1016C>T	ENSP00000506771.1:p.Ala339Val
ENST00000684195.1:c.1016C>T	ENSP00000508220.1:p.Ala339Val
ENST00000361308.9:c.1016C>T	ENSP00000355292.6:p.Ala339Val
ENST00000368300.9:c.1016C>T MANE Select	ENSP00000357283.4:p.Ala339Val
ENST00000496738.6:n.1391C>T
ENST00000674518.1:c.*366C>T	ENSP00000502261.1:n.*366C>T
ENST00000674600.1:c.*815C>T	ENSP00000501666.1:n.*815C>T
ENST00000674720.1:c.1016C>T	ENSP00000502798.1:p.Ala339Val
ENST00000675431.1:n.709C>T
ENST00000675455.1:c.*816C>T	ENSP00000501795.1:n.*816C>T
ENST00000675667.1:c.1016C>T	ENSP00000501803.1:p.Ala339Val
ENST00000675874.1:c.*487C>T	ENSP00000501851.1:n.*487C>T
ENST00000675881.1:c.*27C>T	ENSP00000501670.1:n.*27C>T
ENST00000675939.1:c.1016C>T	ENSP00000502256.1:p.Ala339Val
ENST00000675989.1:n.1391C>T
ENST00000676208.1:c.*27C>T	ENSP00000502468.1:n.*27C>T
ENST00000676283.1:n.1391C>T
ENST00000676385.2:c.1016C>T	ENSP00000502091.1:p.Ala339Val
ENST00000676434.1:c.*27C>T	ENSP00000501648.1:n.*27C>T
ENST00000677389.1:c.1016C>T MANE Plus Clinical	ENSP00000503633.1:p.Ala339Val
ENST00000347559.6:c.1016C>T	ENSP00000292304.3:p.Ala339Val
ENST00000361308.8:c.1016C>T	ENSP00000355292.5:p.Ala339Val
ENST00000368297.5:c.773C>T	ENSP00000357280.1:p.Ala258Val
ENST00000368298.2:n.280C>T
ENST00000368299.7:c.1016C>T	ENSP00000357282.3:p.Ala339Val
ENST00000368300.8:c.1016C>T	ENSP00000357283.4:p.Ala339Val
ENST00000368301.6:c.1016C>T	ENSP00000357284.2:p.Ala339Val
ENST00000448611.6:c.680C>T	ENSP00000395597.2:p.Ala227Val
ENST00000473598.6:c.719C>T	ENSP00000421821.1:p.Ala240Val
ENST00000496738.5:n.401C>T
ENST00000498722.2:n.248C>T
NM_001257374.2:c.680C>T	NP_001244303.1:p.Ala227Val
NM_001282624.1:c.773C>T	NP_001269553.1:p.Ala258Val
NM_001282625.1:c.1016C>T	NP_001269554.1:p.Ala339Val
NM_001282626.1:c.1016C>T	NP_001269555.1:p.Ala339Val
NM_005572.3:c.1016C>T , LRG_254t1:c.1016C>T	NP_005563.1:p.Ala339Val
NM_170707.3:c.1016C>T	NP_733821.1:p.Ala339Val
NM_170708.3:c.1016C>T	NP_733822.1:p.Ala339Val
XM_011509533.1:c.680C>T	XP_011507835.1:p.Ala227Val
XM_011509534.1:c.392C>T	XP_011507836.1:p.Ala131Val
XR_921781.1:n.1305C>T
XM_011509534.2:c.392C>T	XP_011507836.1:p.Ala131Val
XR_921781.2:n.1303C>T
NM_170707.4:c.1016C>T MANE Select	NP_733821.1:p.Ala339Val
NM_001257374.3:c.680C>T	NP_001244303.1:p.Ala227Val
NM_001282626.2:c.1016C>T	NP_001269555.1:p.Ala339Val
NM_001282624.2:c.773C>T	NP_001269553.1:p.Ala258Val
NM_001282625.2:c.1016C>T	NP_001269554.1:p.Ala339Val
NM_005572.4:c.1016C>T MANE Plus Clinical	NP_005563.1:p.Ala339Val
NM_170708.4:c.1016C>T	NP_733822.1:p.Ala339Val