Canonical Allele Identifier: CA342815568

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156100527A>T (hg19) ; chr1:g.156130736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130736A>T , CM000663.2:g.156130736A>T	GRCh38
NC_000001.10:g.156100527A>T , CM000663.1:g.156100527A>T	GRCh37
NC_000001.9:g.154367151A>T	NCBI36
NG_008692.2:g.53164A>T , LRG_254:g.53164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-83A>T	ENSP00000426535.3:n.-83A>T
ENST00000682650.1:c.476A>T	ENSP00000506904.1:p.Glu159Val
ENST00000683032.1:c.476A>T	ENSP00000506771.1:p.Glu159Val
ENST00000684195.1:c.476A>T	ENSP00000508220.1:p.Glu159Val
ENST00000361308.9:c.476A>T	ENSP00000355292.6:p.Glu159Val
ENST00000368300.9:c.476A>T MANE Select	ENSP00000357283.4:p.Glu159Val
ENST00000496738.6:n.851A>T
ENST00000504687.6:c.-189A>T	ENSP00000426535.2:n.-189A>T
ENST00000674518.1:c.476A>T	ENSP00000502261.1:p.Glu159Val
ENST00000674600.1:c.*275A>T	ENSP00000501666.1:n.*275A>T
ENST00000674720.1:c.476A>T	ENSP00000502798.1:p.Glu159Val
ENST00000675431.1:n.169A>T
ENST00000675455.1:c.*276A>T	ENSP00000501795.1:n.*276A>T
ENST00000675667.1:c.476A>T	ENSP00000501803.1:p.Glu159Val
ENST00000675874.1:c.357-3667A>T	ENSP00000501851.1:n.357-3667A>T
ENST00000675881.1:c.476A>T	ENSP00000501670.1:p.Glu159Val
ENST00000675939.1:c.476A>T	ENSP00000502256.1:p.Glu159Val
ENST00000675989.1:n.851A>T
ENST00000676208.1:c.476A>T	ENSP00000502468.1:p.Glu159Val
ENST00000676283.1:n.851A>T
ENST00000676385.2:c.476A>T	ENSP00000502091.1:p.Glu159Val
ENST00000676434.1:c.476A>T	ENSP00000501648.1:p.Glu159Val
ENST00000677389.1:c.476A>T MANE Plus Clinical	ENSP00000503633.1:p.Glu159Val
ENST00000347559.6:c.476A>T	ENSP00000292304.3:p.Glu159Val
ENST00000361308.8:c.476A>T	ENSP00000355292.5:p.Glu159Val
ENST00000368297.5:c.233A>T	ENSP00000357280.1:p.Glu78Val
ENST00000368299.7:c.476A>T	ENSP00000357282.3:p.Glu159Val
ENST00000368300.8:c.476A>T	ENSP00000357283.4:p.Glu159Val
ENST00000368301.6:c.476A>T	ENSP00000357284.2:p.Glu159Val
ENST00000448611.6:c.140A>T	ENSP00000395597.2:p.Glu47Val
ENST00000469565.6:n.510A>T
ENST00000470199.2:n.418A>T
ENST00000473598.6:c.179A>T	ENSP00000421821.1:p.Glu60Val
ENST00000502357.5:n.374A>T
ENST00000502751.5:n.448A>T
ENST00000504687.5:c.227A>T	ENSP00000426535.1:p.Glu76Val
ENST00000515459.5:c.*150A>T	ENSP00000424518.1:n.*150A>T
NM_001257374.2:c.140A>T	NP_001244303.1:p.Glu47Val
NM_001282624.1:c.233A>T	NP_001269553.1:p.Glu78Val
NM_001282625.1:c.476A>T	NP_001269554.1:p.Glu159Val
NM_001282626.1:c.476A>T	NP_001269555.1:p.Glu159Val
NM_005572.3:c.476A>T , LRG_254t1:c.476A>T	NP_005563.1:p.Glu159Val
NM_170707.3:c.476A>T	NP_733821.1:p.Glu159Val
NM_170708.3:c.476A>T	NP_733822.1:p.Glu159Val
XM_011509533.1:c.140A>T	XP_011507835.1:p.Glu47Val
XM_011509534.1:c.-189A>T	XP_011507836.1:n.-189A>T
XR_921781.1:n.725A>T
XM_011509534.2:c.-189A>T	XP_011507836.1:n.-189A>T
XR_921781.2:n.723A>T
NM_170707.4:c.476A>T MANE Select	NP_733821.1:p.Glu159Val
NM_001257374.3:c.140A>T	NP_001244303.1:p.Glu47Val
NM_001282626.2:c.476A>T	NP_001269555.1:p.Glu159Val
NM_001282624.2:c.233A>T	NP_001269553.1:p.Glu78Val
NM_001282625.2:c.476A>T	NP_001269554.1:p.Glu159Val
NM_005572.4:c.476A>T MANE Plus Clinical	NP_005563.1:p.Glu159Val
NM_170708.4:c.476A>T	NP_733822.1:p.Glu159Val