Canonical Allele Identifier: CA018095
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14502
dbSNP Id: rs60310264

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130693G>A , CM000663.2:g.156130693G>A GRCh38
NC_000001.10:g.156100484G>A , CM000663.1:g.156100484G>A GRCh37
NC_000001.9:g.154367108G>A NCBI36
NG_008692.2:g.53121G>A , LRG_254:g.53121G>A

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.97G>A VV NP_001244303.1:p.Glu33Lys
NM_001282624.1:c.190G>A VV NP_001269553.1:p.Glu64Lys
NM_001282625.1:c.433G>A VV NP_001269554.1:p.Glu145Lys
NM_001282626.1:c.433G>A VV NP_001269555.1:p.Glu145Lys
NM_005572.3:c.433G>A , LRG_254t1:c.433G>A NP_005563.1:p.Glu145Lys
NM_170707.3:c.433G>A VV NP_733821.1:p.Glu145Lys
NM_170708.3:c.433G>A VV NP_733822.1:p.Glu145Lys
XM_011509533.1:c.97G>A XP_011507835.1:p.Glu33Lys
XM_011509534.1:c.-232G>A XP_011507836.1:p.=
XR_921781.1:n.682G>A
XM_011509534.2:c.-232G>A XP_011507836.1:p.=
XR_921781.2:n.680G>A
NM_170707.4:c.433G>A VV MANE Preferred NP_733821.1:p.Glu145Lys
ENST00000347559.6:c.433G>A ENSP00000292304.3:p.Glu145Lys
ENST00000361308.8:c.433G>A ENSP00000355292.5:p.Glu145Lys
ENST00000368297.5:c.190G>A ENSP00000357280.1:p.Glu64Lys
ENST00000368299.7:c.433G>A ENSP00000357282.3:p.Glu145Lys
ENST00000368300.8:c.433G>A ENSP00000357283.4:p.Glu145Lys
ENST00000368301.6:c.433G>A ENSP00000357284.2:p.Glu145Lys
ENST00000448611.6:c.97G>A ENSP00000395597.2:p.Glu33Lys
ENST00000469565.6:n.467G>A
ENST00000470199.2:n.375G>A
ENST00000473598.6:c.136G>A ENSP00000421821.1:p.Glu46Lys
ENST00000502357.5:n.331G>A
ENST00000502751.5:n.405G>A
ENST00000504687.5:n.184G>A ENSP00000426535.1:p.Glu62Lys
ENST00000515459.5:c.*107G>A ENSP00000424518.1:p.=