Canonical Allele Identifier: CA017177

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136939T>C , CM000663.2:g.156136939T>C	GRCh38
NC_000001.10:g.156106730T>C , CM000663.1:g.156106730T>C	GRCh37
NC_000001.9:g.154373354T>C	NCBI36
NG_008692.2:g.59367T>C , LRG_254:g.59367T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_170707.4:c.1399T>C MANE Select	NP_733821.1:p.Trp467Arg
ENST00000368300.9:c.1399T>C MANE Select	ENSP00000357283.4:p.Trp467Arg
NM_005572.4:c.1399T>C MANE Plus Clinical	NP_005563.1:p.Trp467Arg
ENST00000677389.1:c.1399T>C MANE Plus Clinical	ENSP00000503633.1:p.Trp467Arg
NM_001257374.2:c.1063T>C	NP_001244303.1:p.Trp355Arg
NM_001257374.3:c.1063T>C	NP_001244303.1:p.Trp355Arg
NM_001282624.1:c.1156T>C	NP_001269553.1:p.Trp386Arg
NM_001282624.2:c.1156T>C	NP_001269553.1:p.Trp386Arg
NM_001282625.1:c.1399T>C	NP_001269554.1:p.Trp467Arg
NM_001282625.2:c.1399T>C	NP_001269554.1:p.Trp467Arg
NM_001282626.1:c.1399T>C	NP_001269555.1:p.Trp467Arg
NM_001282626.2:c.1399T>C	NP_001269555.1:p.Trp467Arg
NM_005572.3:c.1399T>C , LRG_254t1:c.1399T>C	NP_005563.1:p.Trp467Arg
NM_170707.3:c.1399T>C	NP_733821.1:p.Trp467Arg
NM_170708.3:c.1399T>C	NP_733822.1:p.Trp467Arg
NM_170708.4:c.1399T>C	NP_733822.1:p.Trp467Arg
ENST00000347559.6:c.1399T>C	ENSP00000292304.3:p.Trp467Arg
ENST00000361308.8:c.1312-252T>C	ENSP00000355292.5:n.1312-252T>C
ENST00000361308.9:c.1399T>C	ENSP00000355292.6:p.Trp467Arg
ENST00000368297.5:c.1156T>C	ENSP00000357280.1:p.Trp386Arg
ENST00000368298.2:n.1147T>C
ENST00000368299.7:c.1399T>C	ENSP00000357282.3:p.Trp467Arg
ENST00000368300.8:c.1399T>C	ENSP00000357283.4:p.Trp467Arg
ENST00000368301.6:c.1399T>C	ENSP00000357284.2:p.Trp467Arg
ENST00000448611.6:c.1063T>C	ENSP00000395597.2:p.Trp355Arg
ENST00000459904.1:n.647T>C
ENST00000459904.2:n.647T>C
ENST00000473598.6:c.1102T>C	ENSP00000421821.1:p.Trp368Arg
ENST00000496738.5:n.784T>C
ENST00000496738.6:n.1774T>C
ENST00000498722.2:n.631T>C
ENST00000498722.3:n.631T>C
ENST00000504687.7:c.841T>C	ENSP00000426535.3:p.Trp281Arg
ENST00000508500.1:c.277T>C	ENSP00000424977.1:p.Trp93Arg
ENST00000674518.1:c.*749T>C	ENSP00000502261.1:n.*749T>C
ENST00000674600.1:c.*1198T>C	ENSP00000501666.1:n.*1198T>C
ENST00000674720.1:c.1512T>C	ENSP00000502798.1:p.Ile504=
ENST00000675431.1:n.1092T>C
ENST00000675455.1:c.*1199T>C	ENSP00000501795.1:n.*1199T>C
ENST00000675667.1:c.1399T>C	ENSP00000501803.1:p.Trp467Arg
ENST00000675874.1:c.*870T>C	ENSP00000501851.1:n.*870T>C
ENST00000675881.1:c.*410T>C	ENSP00000501670.1:n.*410T>C
ENST00000675939.1:c.1399T>C	ENSP00000502256.1:p.Trp467Arg
ENST00000675989.1:n.2258T>C
ENST00000676208.1:c.*502T>C	ENSP00000502468.1:n.*502T>C
ENST00000676283.1:n.1774T>C
ENST00000676385.2:c.1399T>C	ENSP00000502091.1:p.Trp467Arg
ENST00000676434.1:c.*410T>C	ENSP00000501648.1:n.*410T>C
ENST00000682650.1:c.1399T>C	ENSP00000506904.1:p.Trp467Arg
ENST00000683032.1:c.1399T>C	ENSP00000506771.1:p.Trp467Arg
ENST00000684195.1:c.1399T>C	ENSP00000508220.1:p.Trp467Arg
XM_011509533.1:c.1063T>C	XP_011507835.1:p.Trp355Arg
XM_011509534.1:c.775T>C	XP_011507836.1:p.Trp259Arg
XM_011509534.2:c.775T>C	XP_011507836.1:p.Trp259Arg
XR_921781.1:n.1688T>C
XR_921781.2:n.1686T>C