Canonical Allele Identifier: CA421257546

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156104199G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134408G>A , CM000663.2:g.156134408G>A	GRCh38
NC_000001.10:g.156104199G>A , CM000663.1:g.156104199G>A	GRCh37
NC_000001.9:g.154370823G>A	NCBI36
NG_008692.2:g.56836G>A , LRG_254:g.56836G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.-40G>A	ENSP00000426535.3:n.-40G>A
ENST00000682650.1:c.519G>A	ENSP00000506904.1:p.Glu173=
ENST00000683032.1:c.519G>A	ENSP00000506771.1:p.Glu173=
ENST00000684195.1:c.519G>A	ENSP00000508220.1:p.Glu173=
ENST00000361308.9:c.519G>A	ENSP00000355292.6:p.Glu173=
ENST00000368300.9:c.519G>A MANE Select	ENSP00000357283.4:p.Glu173=
ENST00000496738.6:n.894G>A
ENST00000504687.6:c.-146G>A	ENSP00000426535.2:n.-146G>A
ENST00000674518.1:c.519G>A	ENSP00000502261.1:p.Glu173=
ENST00000674600.1:c.*318G>A	ENSP00000501666.1:n.*318G>A
ENST00000674720.1:c.519G>A	ENSP00000502798.1:p.Glu173=
ENST00000675431.1:n.212G>A
ENST00000675455.1:c.*319G>A	ENSP00000501795.1:n.*319G>A
ENST00000675667.1:c.519G>A	ENSP00000501803.1:p.Glu173=
ENST00000675874.1:c.362G>A	ENSP00000501851.1:p.Arg121Lys
ENST00000675881.1:c.519G>A	ENSP00000501670.1:p.Glu173=
ENST00000675939.1:c.519G>A	ENSP00000502256.1:p.Glu173=
ENST00000675989.1:n.894G>A
ENST00000676208.1:c.519G>A	ENSP00000502468.1:p.Glu173=
ENST00000676283.1:n.894G>A
ENST00000676385.2:c.519G>A	ENSP00000502091.1:p.Glu173=
ENST00000676434.1:c.519G>A	ENSP00000501648.1:p.Glu173=
ENST00000677389.1:c.519G>A MANE Plus Clinical	ENSP00000503633.1:p.Glu173=
ENST00000347559.6:c.519G>A	ENSP00000292304.3:p.Glu173=
ENST00000361308.8:c.519G>A	ENSP00000355292.5:p.Glu173=
ENST00000368297.5:c.276G>A	ENSP00000357280.1:p.Glu92=
ENST00000368299.7:c.519G>A	ENSP00000357282.3:p.Glu173=
ENST00000368300.8:c.519G>A	ENSP00000357283.4:p.Glu173=
ENST00000368301.6:c.519G>A	ENSP00000357284.2:p.Glu173=
ENST00000448611.6:c.183G>A	ENSP00000395597.2:p.Glu61=
ENST00000469565.6:n.553G>A
ENST00000470199.2:n.461G>A
ENST00000473598.6:c.222G>A	ENSP00000421821.1:p.Glu74=
ENST00000502357.5:n.417G>A
ENST00000502751.5:n.491G>A
ENST00000504687.5:c.270G>A	ENSP00000426535.1:p.Glu90=
ENST00000515459.5:c.*193G>A	ENSP00000424518.1:n.*193G>A
NM_001257374.2:c.183G>A	NP_001244303.1:p.Glu61=
NM_001282624.1:c.276G>A	NP_001269553.1:p.Glu92=
NM_001282625.1:c.519G>A	NP_001269554.1:p.Glu173=
NM_001282626.1:c.519G>A	NP_001269555.1:p.Glu173=
NM_005572.3:c.519G>A , LRG_254t1:c.519G>A	NP_005563.1:p.Glu173=
NM_170707.3:c.519G>A	NP_733821.1:p.Glu173=
NM_170708.3:c.519G>A	NP_733822.1:p.Glu173=
XM_011509533.1:c.183G>A	XP_011507835.1:p.Glu61=
XM_011509534.1:c.-146G>A	XP_011507836.1:n.-146G>A
XR_921781.1:n.768G>A
XM_011509534.2:c.-146G>A	XP_011507836.1:n.-146G>A
XR_921781.2:n.766G>A
NM_170707.4:c.519G>A MANE Select	NP_733821.1:p.Glu173=
NM_001257374.3:c.183G>A	NP_001244303.1:p.Glu61=
NM_001282626.2:c.519G>A	NP_001269555.1:p.Glu173=
NM_001282624.2:c.276G>A	NP_001269553.1:p.Glu92=
NM_001282625.2:c.519G>A	NP_001269554.1:p.Glu173=
NM_005572.4:c.519G>A MANE Plus Clinical	NP_005563.1:p.Glu173=
NM_170708.4:c.519G>A	NP_733822.1:p.Glu173=