Canonical Allele Identifier: CA018633

Gene: LMNA

Linked Data

• ClinVar Variation Id: 48081
• ClinVar RCV Id: RCV000041366 ; RCV003581570
• dbSNP Id: rs397517909
• MyVariant Identifiers: chr1:g.156104740G>T (hg19) ; chr1:g.156134949G>T (hg38)
• PubMed: PMID:11138304

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134949G>T , CM000663.2:g.156134949G>T	GRCh38
NC_000001.10:g.156104740G>T , CM000663.1:g.156104740G>T	GRCh37
NC_000001.9:g.154371364G>T	NCBI36
NG_008692.2:g.57377G>T , LRG_254:g.57377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.226G>T	ENSP00000426535.3:p.Glu76Ter
ENST00000682650.1:c.784G>T	ENSP00000506904.1:p.Glu262Ter
ENST00000683032.1:c.784G>T	ENSP00000506771.1:p.Glu262Ter
ENST00000684195.1:c.784G>T	ENSP00000508220.1:p.Glu262Ter
ENST00000361308.9:c.784G>T	ENSP00000355292.6:p.Glu262Ter
ENST00000368300.9:c.784G>T MANE Select	ENSP00000357283.4:p.Glu262Ter
ENST00000496738.6:n.1159G>T
ENST00000504687.6:c.120G>T	ENSP00000426535.2:p.Arg40Ser
ENST00000674518.1:c.*134G>T	ENSP00000502261.1:n.*134G>T
ENST00000674600.1:c.*583G>T	ENSP00000501666.1:n.*583G>T
ENST00000674720.1:c.784G>T	ENSP00000502798.1:p.Glu262Ter
ENST00000675431.1:n.477G>T
ENST00000675455.1:c.*584G>T	ENSP00000501795.1:n.*584G>T
ENST00000675667.1:c.784G>T	ENSP00000501803.1:p.Glu262Ter
ENST00000675874.1:c.*255G>T	ENSP00000501851.1:n.*255G>T
ENST00000675881.1:c.784G>T	ENSP00000501670.1:p.Glu262Ter
ENST00000675939.1:c.784G>T	ENSP00000502256.1:p.Glu262Ter
ENST00000675989.1:n.1159G>T
ENST00000676208.1:c.784G>T	ENSP00000502468.1:p.Glu262Ter
ENST00000676283.1:n.1159G>T
ENST00000676385.2:c.784G>T	ENSP00000502091.1:p.Glu262Ter
ENST00000676434.1:c.784G>T	ENSP00000501648.1:p.Glu262Ter
ENST00000677389.1:c.784G>T MANE Plus Clinical	ENSP00000503633.1:p.Glu262Ter
ENST00000347559.6:c.784G>T	ENSP00000292304.3:p.Glu262Ter
ENST00000361308.8:c.784G>T	ENSP00000355292.5:p.Glu262Ter
ENST00000368297.5:c.541G>T	ENSP00000357280.1:p.Glu181Ter
ENST00000368299.7:c.784G>T	ENSP00000357282.3:p.Glu262Ter
ENST00000368300.8:c.784G>T	ENSP00000357283.4:p.Glu262Ter
ENST00000368301.6:c.784G>T	ENSP00000357284.2:p.Glu262Ter
ENST00000448611.6:c.448G>T	ENSP00000395597.2:p.Glu150Ter
ENST00000473598.6:c.487G>T	ENSP00000421821.1:p.Glu163Ter
ENST00000496738.5:n.129G>T
ENST00000504687.5:c.535G>T	ENSP00000426535.1:p.Glu179Ter
ENST00000515459.5:c.*458G>T	ENSP00000424518.1:n.*458G>T
ENST00000515824.1:n.145G>T
NM_001257374.2:c.448G>T	NP_001244303.1:p.Glu150Ter
NM_001282624.1:c.541G>T	NP_001269553.1:p.Glu181Ter
NM_001282625.1:c.784G>T	NP_001269554.1:p.Glu262Ter
NM_001282626.1:c.784G>T	NP_001269555.1:p.Glu262Ter
NM_005572.3:c.784G>T , LRG_254t1:c.784G>T	NP_005563.1:p.Glu262Ter
NM_170707.3:c.784G>T	NP_733821.1:p.Glu262Ter
NM_170708.3:c.784G>T	NP_733822.1:p.Glu262Ter
XM_011509533.1:c.448G>T	XP_011507835.1:p.Glu150Ter
XM_011509534.1:c.120G>T	XP_011507836.1:p.Arg40Ser
XR_921781.1:n.1033G>T
XM_011509534.2:c.120G>T	XP_011507836.1:p.Arg40Ser
XR_921781.2:n.1031G>T
NM_170707.4:c.784G>T MANE Select	NP_733821.1:p.Glu262Ter
NM_001257374.3:c.448G>T	NP_001244303.1:p.Glu150Ter
NM_001282626.2:c.784G>T	NP_001269555.1:p.Glu262Ter
NM_001282624.2:c.541G>T	NP_001269553.1:p.Glu181Ter
NM_001282625.2:c.784G>T	NP_001269554.1:p.Glu262Ter
NM_005572.4:c.784G>T MANE Plus Clinical	NP_005563.1:p.Glu262Ter
NM_170708.4:c.784G>T	NP_733822.1:p.Glu262Ter