Canonical Allele Identifier: CA016555

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14525
• ClinVar RCV Id: RCV000015623 ; RCV000015622 ; RCV000057227 ; RCV000470514 ; RCV000502108 ; RCV001420791
• dbSNP Id: rs60458016
• MyVariant Identifiers: chr1:g.156105827G>A (hg19) ; chr1:g.156136036G>A (hg38)
• PubMed: PMID:15148145 ; PMID:18551513

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136036G>A , CM000663.2:g.156136036G>A	GRCh38
NC_000001.10:g.156105827G>A , CM000663.1:g.156105827G>A	GRCh37
NC_000001.9:g.154372451G>A	NCBI36
NG_008692.2:g.58464G>A , LRG_254:g.58464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.514G>A	ENSP00000426535.3:p.Glu172Lys
ENST00000498722.3:n.304G>A
ENST00000682650.1:c.1072G>A	ENSP00000506904.1:p.Glu358Lys
ENST00000683032.1:c.1072G>A	ENSP00000506771.1:p.Glu358Lys
ENST00000684195.1:c.1072G>A	ENSP00000508220.1:p.Glu358Lys
ENST00000361308.9:c.1072G>A	ENSP00000355292.6:p.Glu358Lys
ENST00000368300.9:c.1072G>A MANE Select	ENSP00000357283.4:p.Glu358Lys
ENST00000496738.6:n.1447G>A
ENST00000674518.1:c.*422G>A	ENSP00000502261.1:n.*422G>A
ENST00000674600.1:c.*871G>A	ENSP00000501666.1:n.*871G>A
ENST00000674720.1:c.1072G>A	ENSP00000502798.1:p.Glu358Lys
ENST00000675431.1:n.765G>A
ENST00000675455.1:c.*872G>A	ENSP00000501795.1:n.*872G>A
ENST00000675667.1:c.1072G>A	ENSP00000501803.1:p.Glu358Lys
ENST00000675874.1:c.*543G>A	ENSP00000501851.1:n.*543G>A
ENST00000675881.1:c.*83G>A	ENSP00000501670.1:n.*83G>A
ENST00000675939.1:c.1072G>A	ENSP00000502256.1:p.Glu358Lys
ENST00000675989.1:n.1447G>A
ENST00000676208.1:c.*83G>A	ENSP00000502468.1:n.*83G>A
ENST00000676283.1:n.1447G>A
ENST00000676385.2:c.1072G>A	ENSP00000502091.1:p.Glu358Lys
ENST00000676434.1:c.*83G>A	ENSP00000501648.1:n.*83G>A
ENST00000677389.1:c.1072G>A MANE Plus Clinical	ENSP00000503633.1:p.Glu358Lys
ENST00000347559.6:c.1072G>A	ENSP00000292304.3:p.Glu358Lys
ENST00000361308.8:c.1072G>A	ENSP00000355292.5:p.Glu358Lys
ENST00000368297.5:c.829G>A	ENSP00000357280.1:p.Glu277Lys
ENST00000368298.2:n.336G>A
ENST00000368299.7:c.1072G>A	ENSP00000357282.3:p.Glu358Lys
ENST00000368300.8:c.1072G>A	ENSP00000357283.4:p.Glu358Lys
ENST00000368301.6:c.1072G>A	ENSP00000357284.2:p.Glu358Lys
ENST00000448611.6:c.736G>A	ENSP00000395597.2:p.Glu246Lys
ENST00000473598.6:c.775G>A	ENSP00000421821.1:p.Glu259Lys
ENST00000496738.5:n.457G>A
ENST00000498722.2:n.304G>A
NM_001257374.2:c.736G>A	NP_001244303.1:p.Glu246Lys
NM_001282624.1:c.829G>A	NP_001269553.1:p.Glu277Lys
NM_001282625.1:c.1072G>A	NP_001269554.1:p.Glu358Lys
NM_001282626.1:c.1072G>A	NP_001269555.1:p.Glu358Lys
NM_005572.3:c.1072G>A , LRG_254t1:c.1072G>A	NP_005563.1:p.Glu358Lys
NM_170707.3:c.1072G>A	NP_733821.1:p.Glu358Lys
NM_170708.3:c.1072G>A	NP_733822.1:p.Glu358Lys
XM_011509533.1:c.736G>A	XP_011507835.1:p.Glu246Lys
XM_011509534.1:c.448G>A	XP_011507836.1:p.Glu150Lys
XR_921781.1:n.1361G>A
XM_011509534.2:c.448G>A	XP_011507836.1:p.Glu150Lys
XR_921781.2:n.1359G>A
NM_170707.4:c.1072G>A MANE Select	NP_733821.1:p.Glu358Lys
NM_001257374.3:c.736G>A	NP_001244303.1:p.Glu246Lys
NM_001282626.2:c.1072G>A	NP_001269555.1:p.Glu358Lys
NM_001282624.2:c.829G>A	NP_001269553.1:p.Glu277Lys
NM_001282625.2:c.1072G>A	NP_001269554.1:p.Glu358Lys
NM_005572.4:c.1072G>A MANE Plus Clinical	NP_005563.1:p.Glu358Lys
NM_170708.4:c.1072G>A	NP_733822.1:p.Glu358Lys