Canonical Allele Identifier: CA10581731

Gene: LMNA

Linked Data

• ClinVar Variation Id: 242003
• ClinVar RCV Id: RCV000227241 ; RCV000235371 ; RCV000498163 ; RCV000777786 ; RCV001098894 ; RCV001098895 ; RCV001100714 ; RCV001100715 ; RCV001100716 ; RCV001100717 ; RCV001098896 ; RCV001100713 ; RCV001100718 ; RCV001100712 ; RCV003998892 ; RCV002298550 ; RCV002392721 ; RCV002500822
• dbSNP Id: rs878855233
• gnomAD v2: 1-156106932-A-C
• gnomAD v3: 1-156137141-A-C
• gnomAD v4: 1-156137141-A-C
• MyVariant Identifiers: chr1:g.156106932A>C (hg19) ; chr1:g.156137141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137141A>C , CM000663.2:g.156137141A>C	GRCh38
NC_000001.10:g.156106932A>C , CM000663.1:g.156106932A>C	GRCh37
NC_000001.9:g.154373556A>C	NCBI36
NG_008692.2:g.59569A>C , LRG_254:g.59569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.959A>C	ENSP00000426535.3:p.His320Pro
ENST00000459904.2:n.765A>C
ENST00000498722.3:n.749A>C
ENST00000682650.1:c.1517A>C	ENSP00000506904.1:p.His506Pro
ENST00000683032.1:c.1517A>C	ENSP00000506771.1:p.His506Pro
ENST00000684195.1:c.1517A>C	ENSP00000508220.1:p.His506Pro
ENST00000361308.9:c.1517A>C	ENSP00000355292.6:p.His506Pro
ENST00000368300.9:c.1517A>C MANE Select	ENSP00000357283.4:p.His506Pro
ENST00000496738.6:n.1976A>C
ENST00000674518.1:c.*867A>C	ENSP00000502261.1:n.*867A>C
ENST00000674600.1:c.*1316A>C	ENSP00000501666.1:n.*1316A>C
ENST00000674720.1:c.*79A>C	ENSP00000502798.1:n.*79A>C
ENST00000675431.1:n.1210A>C
ENST00000675455.1:c.*1317A>C	ENSP00000501795.1:n.*1317A>C
ENST00000675667.1:c.1517A>C	ENSP00000501803.1:p.His506Pro
ENST00000675874.1:c.*988A>C	ENSP00000501851.1:n.*988A>C
ENST00000675881.1:c.*528A>C	ENSP00000501670.1:n.*528A>C
ENST00000675939.1:c.1517A>C	ENSP00000502256.1:p.His506Pro
ENST00000675989.1:n.2376A>C
ENST00000676208.1:c.*620A>C	ENSP00000502468.1:n.*620A>C
ENST00000676283.1:n.1892A>C
ENST00000676385.2:c.1517A>C	ENSP00000502091.1:p.His506Pro
ENST00000676434.1:c.*528A>C	ENSP00000501648.1:n.*528A>C
ENST00000677389.1:c.1517A>C MANE Plus Clinical	ENSP00000503633.1:p.His506Pro
ENST00000347559.6:c.1517A>C	ENSP00000292304.3:p.His506Pro
ENST00000361308.8:c.1312-50A>C	ENSP00000355292.5:n.1312-50A>C
ENST00000368297.5:c.1274A>C	ENSP00000357280.1:p.His425Pro
ENST00000368298.2:n.1349A>C
ENST00000368299.7:c.1517A>C	ENSP00000357282.3:p.His506Pro
ENST00000368300.8:c.1517A>C	ENSP00000357283.4:p.His506Pro
ENST00000368301.6:c.1517A>C	ENSP00000357284.2:p.His506Pro
ENST00000448611.6:c.1181A>C	ENSP00000395597.2:p.His394Pro
ENST00000459904.1:n.765A>C
ENST00000473598.6:c.1220A>C	ENSP00000421821.1:p.His407Pro
ENST00000496738.5:n.986A>C
ENST00000498722.2:n.749A>C
ENST00000508500.1:c.395A>C	ENSP00000424977.1:p.His132Pro
NM_001257374.2:c.1181A>C	NP_001244303.1:p.His394Pro
NM_001282624.1:c.1274A>C	NP_001269553.1:p.His425Pro
NM_001282625.1:c.1517A>C	NP_001269554.1:p.His506Pro
NM_001282626.1:c.1517A>C	NP_001269555.1:p.His506Pro
NM_005572.3:c.1517A>C , LRG_254t1:c.1517A>C	NP_005563.1:p.His506Pro
NM_170707.3:c.1517A>C	NP_733821.1:p.His506Pro
NM_170708.3:c.1517A>C	NP_733822.1:p.His506Pro
XM_011509533.1:c.1181A>C	XP_011507835.1:p.His394Pro
XM_011509534.1:c.893A>C	XP_011507836.1:p.His298Pro
XR_921781.1:n.1806A>C
XM_011509534.2:c.893A>C	XP_011507836.1:p.His298Pro
XR_921781.2:n.1804A>C
NM_170707.4:c.1517A>C MANE Select	NP_733821.1:p.His506Pro
NM_001257374.3:c.1181A>C	NP_001244303.1:p.His394Pro
NM_001282626.2:c.1517A>C	NP_001269555.1:p.His506Pro
NM_001282624.2:c.1274A>C	NP_001269553.1:p.His425Pro
NM_001282625.2:c.1517A>C	NP_001269554.1:p.His506Pro
NM_005572.4:c.1517A>C MANE Plus Clinical	NP_005563.1:p.His506Pro
NM_170708.4:c.1517A>C	NP_733822.1:p.His506Pro