Canonical Allele Identifier: CA421068782

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1593191
• ClinVar RCV Id: RCV002112686 ; RCV003970874
• dbSNP Id: rs1651541956
• gnomAD v4: 1-156135931-C-T
• MyVariant Identifiers: chr1:g.156105722C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135931C>T , CM000663.2:g.156135931C>T	GRCh38
NC_000001.10:g.156105722C>T , CM000663.1:g.156105722C>T	GRCh37
NC_000001.9:g.154372346C>T	NCBI36
NG_008692.2:g.58359C>T , LRG_254:g.58359C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.409C>T	ENSP00000426535.3:p.Leu137=
ENST00000498722.3:n.199C>T
ENST00000682650.1:c.967C>T	ENSP00000506904.1:p.Leu323=
ENST00000683032.1:c.967C>T	ENSP00000506771.1:p.Leu323=
ENST00000684195.1:c.967C>T	ENSP00000508220.1:p.Leu323=
ENST00000361308.9:c.967C>T	ENSP00000355292.6:p.Leu323=
ENST00000368300.9:c.967C>T MANE Select	ENSP00000357283.4:p.Leu323=
ENST00000496738.6:n.1342C>T
ENST00000674518.1:c.*317C>T	ENSP00000502261.1:n.*317C>T
ENST00000674600.1:c.*766C>T	ENSP00000501666.1:n.*766C>T
ENST00000674720.1:c.967C>T	ENSP00000502798.1:p.Leu323=
ENST00000675431.1:n.660C>T
ENST00000675455.1:c.*767C>T	ENSP00000501795.1:n.*767C>T
ENST00000675667.1:c.967C>T	ENSP00000501803.1:p.Leu323=
ENST00000675874.1:c.*438C>T	ENSP00000501851.1:n.*438C>T
ENST00000675881.1:c.1007C>T	ENSP00000501670.1:p.Pro336Leu
ENST00000675939.1:c.967C>T	ENSP00000502256.1:p.Leu323=
ENST00000675989.1:n.1342C>T
ENST00000676208.1:c.1007C>T	ENSP00000502468.1:p.Pro336Leu
ENST00000676283.1:n.1342C>T
ENST00000676385.2:c.967C>T	ENSP00000502091.1:p.Leu323=
ENST00000676434.1:c.1007C>T	ENSP00000501648.1:p.Pro336Leu
ENST00000677389.1:c.967C>T MANE Plus Clinical	ENSP00000503633.1:p.Leu323=
ENST00000347559.6:c.967C>T	ENSP00000292304.3:p.Leu323=
ENST00000361308.8:c.967C>T	ENSP00000355292.5:p.Leu323=
ENST00000368297.5:c.724C>T	ENSP00000357280.1:p.Leu242=
ENST00000368298.2:n.231C>T
ENST00000368299.7:c.967C>T	ENSP00000357282.3:p.Leu323=
ENST00000368300.8:c.967C>T	ENSP00000357283.4:p.Leu323=
ENST00000368301.6:c.967C>T	ENSP00000357284.2:p.Leu323=
ENST00000448611.6:c.631C>T	ENSP00000395597.2:p.Leu211=
ENST00000473598.6:c.670C>T	ENSP00000421821.1:p.Leu224=
ENST00000496738.5:n.352C>T
ENST00000498722.2:n.199C>T
NM_001257374.2:c.631C>T	NP_001244303.1:p.Leu211=
NM_001282624.1:c.724C>T	NP_001269553.1:p.Leu242=
NM_001282625.1:c.967C>T	NP_001269554.1:p.Leu323=
NM_001282626.1:c.967C>T	NP_001269555.1:p.Leu323=
NM_005572.3:c.967C>T , LRG_254t1:c.967C>T	NP_005563.1:p.Leu323=
NM_170707.3:c.967C>T	NP_733821.1:p.Leu323=
NM_170708.3:c.967C>T	NP_733822.1:p.Leu323=
XM_011509533.1:c.631C>T	XP_011507835.1:p.Leu211=
XM_011509534.1:c.343C>T	XP_011507836.1:p.Leu115=
XR_921781.1:n.1256C>T
XM_011509534.2:c.343C>T	XP_011507836.1:p.Leu115=
XR_921781.2:n.1254C>T
NM_170707.4:c.967C>T MANE Select	NP_733821.1:p.Leu323=
NM_001257374.3:c.631C>T	NP_001244303.1:p.Leu211=
NM_001282626.2:c.967C>T	NP_001269555.1:p.Leu323=
NM_001282624.2:c.724C>T	NP_001269553.1:p.Leu242=
NM_001282625.2:c.967C>T	NP_001269554.1:p.Leu323=
NM_005572.4:c.967C>T MANE Plus Clinical	NP_005563.1:p.Leu323=
NM_170708.4:c.967C>T	NP_733822.1:p.Leu323=