Canonical Allele Identifier: CA342820237

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2977457
• ClinVar RCV Id: RCV003831575 ; RCV004006110 ; RCV004366879
• dbSNP Id: rs1651560077
• gnomAD v4: 1-156135998-T-C
• MyVariant Identifiers: chr1:g.156105789T>C (hg19) ; chr1:g.156135998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135998T>C , CM000663.2:g.156135998T>C	GRCh38
NC_000001.10:g.156105789T>C , CM000663.1:g.156105789T>C	GRCh37
NC_000001.9:g.154372413T>C	NCBI36
NG_008692.2:g.58426T>C , LRG_254:g.58426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.476T>C	ENSP00000426535.3:p.Met159Thr
ENST00000498722.3:n.266T>C
ENST00000682650.1:c.1034T>C	ENSP00000506904.1:p.Met345Thr
ENST00000683032.1:c.1034T>C	ENSP00000506771.1:p.Met345Thr
ENST00000684195.1:c.1034T>C	ENSP00000508220.1:p.Met345Thr
ENST00000361308.9:c.1034T>C	ENSP00000355292.6:p.Met345Thr
ENST00000368300.9:c.1034T>C MANE Select	ENSP00000357283.4:p.Met345Thr
ENST00000496738.6:n.1409T>C
ENST00000674518.1:c.*384T>C	ENSP00000502261.1:n.*384T>C
ENST00000674600.1:c.*833T>C	ENSP00000501666.1:n.*833T>C
ENST00000674720.1:c.1034T>C	ENSP00000502798.1:p.Met345Thr
ENST00000675431.1:n.727T>C
ENST00000675455.1:c.*834T>C	ENSP00000501795.1:n.*834T>C
ENST00000675667.1:c.1034T>C	ENSP00000501803.1:p.Met345Thr
ENST00000675874.1:c.*505T>C	ENSP00000501851.1:n.*505T>C
ENST00000675881.1:c.*45T>C	ENSP00000501670.1:n.*45T>C
ENST00000675939.1:c.1034T>C	ENSP00000502256.1:p.Met345Thr
ENST00000675989.1:n.1409T>C
ENST00000676208.1:c.*45T>C	ENSP00000502468.1:n.*45T>C
ENST00000676283.1:n.1409T>C
ENST00000676385.2:c.1034T>C	ENSP00000502091.1:p.Met345Thr
ENST00000676434.1:c.*45T>C	ENSP00000501648.1:n.*45T>C
ENST00000677389.1:c.1034T>C MANE Plus Clinical	ENSP00000503633.1:p.Met345Thr
ENST00000347559.6:c.1034T>C	ENSP00000292304.3:p.Met345Thr
ENST00000361308.8:c.1034T>C	ENSP00000355292.5:p.Met345Thr
ENST00000368297.5:c.791T>C	ENSP00000357280.1:p.Met264Thr
ENST00000368298.2:n.298T>C
ENST00000368299.7:c.1034T>C	ENSP00000357282.3:p.Met345Thr
ENST00000368300.8:c.1034T>C	ENSP00000357283.4:p.Met345Thr
ENST00000368301.6:c.1034T>C	ENSP00000357284.2:p.Met345Thr
ENST00000448611.6:c.698T>C	ENSP00000395597.2:p.Met233Thr
ENST00000473598.6:c.737T>C	ENSP00000421821.1:p.Met246Thr
ENST00000496738.5:n.419T>C
ENST00000498722.2:n.266T>C
NM_001257374.2:c.698T>C	NP_001244303.1:p.Met233Thr
NM_001282624.1:c.791T>C	NP_001269553.1:p.Met264Thr
NM_001282625.1:c.1034T>C	NP_001269554.1:p.Met345Thr
NM_001282626.1:c.1034T>C	NP_001269555.1:p.Met345Thr
NM_005572.3:c.1034T>C , LRG_254t1:c.1034T>C	NP_005563.1:p.Met345Thr
NM_170707.3:c.1034T>C	NP_733821.1:p.Met345Thr
NM_170708.3:c.1034T>C	NP_733822.1:p.Met345Thr
XM_011509533.1:c.698T>C	XP_011507835.1:p.Met233Thr
XM_011509534.1:c.410T>C	XP_011507836.1:p.Met137Thr
XR_921781.1:n.1323T>C
XM_011509534.2:c.410T>C	XP_011507836.1:p.Met137Thr
XR_921781.2:n.1321T>C
NM_170707.4:c.1034T>C MANE Select	NP_733821.1:p.Met345Thr
NM_001257374.3:c.698T>C	NP_001244303.1:p.Met233Thr
NM_001282626.2:c.1034T>C	NP_001269555.1:p.Met345Thr
NM_001282624.2:c.791T>C	NP_001269553.1:p.Met264Thr
NM_001282625.2:c.1034T>C	NP_001269554.1:p.Met345Thr
NM_005572.4:c.1034T>C MANE Plus Clinical	NP_005563.1:p.Met345Thr
NM_170708.4:c.1034T>C	NP_733822.1:p.Met345Thr