Canonical Allele Identifier: CA342817113

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156104596G>A (hg19) ; chr1:g.156134805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134805G>A , CM000663.2:g.156134805G>A	GRCh38
NC_000001.10:g.156104596G>A , CM000663.1:g.156104596G>A	GRCh37
NC_000001.9:g.154371220G>A	NCBI36
NG_008692.2:g.57233G>A , LRG_254:g.57233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.82G>A	ENSP00000426535.3:p.Glu28Lys
ENST00000682650.1:c.640G>A	ENSP00000506904.1:p.Glu214Lys
ENST00000683032.1:c.640G>A	ENSP00000506771.1:p.Glu214Lys
ENST00000684195.1:c.640G>A	ENSP00000508220.1:p.Glu214Lys
ENST00000361308.9:c.640G>A	ENSP00000355292.6:p.Glu214Lys
ENST00000368300.9:c.640G>A MANE Select	ENSP00000357283.4:p.Glu214Lys
ENST00000496738.6:n.1015G>A
ENST00000504687.6:c.-25G>A	ENSP00000426535.2:n.-25G>A
ENST00000674518.1:c.635G>A	ENSP00000502261.1:p.Arg212Lys
ENST00000674600.1:c.*439G>A	ENSP00000501666.1:n.*439G>A
ENST00000674720.1:c.640G>A	ENSP00000502798.1:p.Glu214Lys
ENST00000675431.1:n.333G>A
ENST00000675455.1:c.*440G>A	ENSP00000501795.1:n.*440G>A
ENST00000675667.1:c.640G>A	ENSP00000501803.1:p.Glu214Lys
ENST00000675874.1:c.*111G>A	ENSP00000501851.1:n.*111G>A
ENST00000675881.1:c.640G>A	ENSP00000501670.1:p.Glu214Lys
ENST00000675939.1:c.640G>A	ENSP00000502256.1:p.Glu214Lys
ENST00000675989.1:n.1015G>A
ENST00000676208.1:c.640G>A	ENSP00000502468.1:p.Glu214Lys
ENST00000676283.1:n.1015G>A
ENST00000676385.2:c.640G>A	ENSP00000502091.1:p.Glu214Lys
ENST00000676434.1:c.640G>A	ENSP00000501648.1:p.Glu214Lys
ENST00000677389.1:c.640G>A MANE Plus Clinical	ENSP00000503633.1:p.Glu214Lys
ENST00000347559.6:c.640G>A	ENSP00000292304.3:p.Glu214Lys
ENST00000361308.8:c.640G>A	ENSP00000355292.5:p.Glu214Lys
ENST00000368297.5:c.397G>A	ENSP00000357280.1:p.Glu133Lys
ENST00000368299.7:c.640G>A	ENSP00000357282.3:p.Glu214Lys
ENST00000368300.8:c.640G>A	ENSP00000357283.4:p.Glu214Lys
ENST00000368301.6:c.640G>A	ENSP00000357284.2:p.Glu214Lys
ENST00000448611.6:c.304G>A	ENSP00000395597.2:p.Glu102Lys
ENST00000473598.6:c.343G>A	ENSP00000421821.1:p.Glu115Lys
ENST00000504687.5:c.391G>A	ENSP00000426535.1:p.Glu131Lys
ENST00000515459.5:c.*314G>A	ENSP00000424518.1:n.*314G>A
ENST00000515824.1:n.1G>A
NM_001257374.2:c.304G>A	NP_001244303.1:p.Glu102Lys
NM_001282624.1:c.397G>A	NP_001269553.1:p.Glu133Lys
NM_001282625.1:c.640G>A	NP_001269554.1:p.Glu214Lys
NM_001282626.1:c.640G>A	NP_001269555.1:p.Glu214Lys
NM_005572.3:c.640G>A , LRG_254t1:c.640G>A	NP_005563.1:p.Glu214Lys
NM_170707.3:c.640G>A	NP_733821.1:p.Glu214Lys
NM_170708.3:c.640G>A	NP_733822.1:p.Glu214Lys
XM_011509533.1:c.304G>A	XP_011507835.1:p.Glu102Lys
XM_011509534.1:c.-25G>A	XP_011507836.1:n.-25G>A
XR_921781.1:n.889G>A
XM_011509534.2:c.-25G>A	XP_011507836.1:n.-25G>A
XR_921781.2:n.887G>A
NM_170707.4:c.640G>A MANE Select	NP_733821.1:p.Glu214Lys
NM_001257374.3:c.304G>A	NP_001244303.1:p.Glu102Lys
NM_001282626.2:c.640G>A	NP_001269555.1:p.Glu214Lys
NM_001282624.2:c.397G>A	NP_001269553.1:p.Glu133Lys
NM_001282625.2:c.640G>A	NP_001269554.1:p.Glu214Lys
NM_005572.4:c.640G>A MANE Plus Clinical	NP_005563.1:p.Glu214Lys
NM_170708.4:c.640G>A	NP_733822.1:p.Glu214Lys