Canonical Allele Identifier: CA016471

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136008G>T , CM000663.2:g.156136008G>T	GRCh38
NC_000001.10:g.156105799G>T , CM000663.1:g.156105799G>T	GRCh37
NC_000001.9:g.154372423G>T	NCBI36
NG_008692.2:g.58436G>T , LRG_254:g.58436G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170707.4:c.1044G>T MANE Select	NP_733821.1:p.Met348Ile
ENST00000368300.9:c.1044G>T MANE Select	ENSP00000357283.4:p.Met348Ile
NM_005572.4:c.1044G>T MANE Plus Clinical	NP_005563.1:p.Met348Ile
ENST00000677389.1:c.1044G>T MANE Plus Clinical	ENSP00000503633.1:p.Met348Ile
NM_001257374.2:c.708G>T	NP_001244303.1:p.Met236Ile
NM_001257374.3:c.708G>T	NP_001244303.1:p.Met236Ile
NM_001282624.1:c.801G>T	NP_001269553.1:p.Met267Ile
NM_001282624.2:c.801G>T	NP_001269553.1:p.Met267Ile
NM_001282625.1:c.1044G>T	NP_001269554.1:p.Met348Ile
NM_001282625.2:c.1044G>T	NP_001269554.1:p.Met348Ile
NM_001282626.1:c.1044G>T	NP_001269555.1:p.Met348Ile
NM_001282626.2:c.1044G>T	NP_001269555.1:p.Met348Ile
NM_005572.3:c.1044G>T , LRG_254t1:c.1044G>T	NP_005563.1:p.Met348Ile
NM_170707.3:c.1044G>T	NP_733821.1:p.Met348Ile
NM_170708.3:c.1044G>T	NP_733822.1:p.Met348Ile
NM_170708.4:c.1044G>T	NP_733822.1:p.Met348Ile
ENST00000347559.6:c.1044G>T	ENSP00000292304.3:p.Met348Ile
ENST00000361308.8:c.1044G>T	ENSP00000355292.5:p.Met348Ile
ENST00000361308.9:c.1044G>T	ENSP00000355292.6:p.Met348Ile
ENST00000368297.5:c.801G>T	ENSP00000357280.1:p.Met267Ile
ENST00000368298.2:n.308G>T
ENST00000368299.7:c.1044G>T	ENSP00000357282.3:p.Met348Ile
ENST00000368300.8:c.1044G>T	ENSP00000357283.4:p.Met348Ile
ENST00000368301.6:c.1044G>T	ENSP00000357284.2:p.Met348Ile
ENST00000448611.6:c.708G>T	ENSP00000395597.2:p.Met236Ile
ENST00000473598.6:c.747G>T	ENSP00000421821.1:p.Met249Ile
ENST00000496738.5:n.429G>T
ENST00000496738.6:n.1419G>T
ENST00000498722.2:n.276G>T
ENST00000498722.3:n.276G>T
ENST00000504687.7:c.486G>T	ENSP00000426535.3:p.Met162Ile
ENST00000674518.1:c.*394G>T	ENSP00000502261.1:n.*394G>T
ENST00000674600.1:c.*843G>T	ENSP00000501666.1:n.*843G>T
ENST00000674720.1:c.1044G>T	ENSP00000502798.1:p.Met348Ile
ENST00000675431.1:n.737G>T
ENST00000675455.1:c.*844G>T	ENSP00000501795.1:n.*844G>T
ENST00000675667.1:c.1044G>T	ENSP00000501803.1:p.Met348Ile
ENST00000675874.1:c.*515G>T	ENSP00000501851.1:n.*515G>T
ENST00000675881.1:c.*55G>T	ENSP00000501670.1:n.*55G>T
ENST00000675939.1:c.1044G>T	ENSP00000502256.1:p.Met348Ile
ENST00000675989.1:n.1419G>T
ENST00000676208.1:c.*55G>T	ENSP00000502468.1:n.*55G>T
ENST00000676283.1:n.1419G>T
ENST00000676385.2:c.1044G>T	ENSP00000502091.1:p.Met348Ile
ENST00000676434.1:c.*55G>T	ENSP00000501648.1:n.*55G>T
ENST00000682650.1:c.1044G>T	ENSP00000506904.1:p.Met348Ile
ENST00000683032.1:c.1044G>T	ENSP00000506771.1:p.Met348Ile
ENST00000684195.1:c.1044G>T	ENSP00000508220.1:p.Met348Ile
XM_011509533.1:c.708G>T	XP_011507835.1:p.Met236Ile
XM_011509534.1:c.420G>T	XP_011507836.1:p.Met140Ile
XM_011509534.2:c.420G>T	XP_011507836.1:p.Met140Ile
XR_921781.1:n.1333G>T
XR_921781.2:n.1331G>T