Canonical Allele Identifier: CA017504

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66849
• ClinVar RCV Id: RCV000057328 ; RCV000201062 ; RCV001045262 ; RCV000986432
• dbSNP Id: rs57629361
• MyVariant Identifiers: chr1:g.156106998C>A (hg19) ; chr1:g.156137207C>A (hg38)
• PubMed: PMID:1849984 ; PMID:10739764 ; PMID:10939567 ; PMID:11792809 ; PMID:11901143 ; PMID:14659775 ; PMID:17377071 ; PMID:20980393 ; PMID:21173262 ; PMID:23427149 ; PMID:24642510

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137207C>A , CM000663.2:g.156137207C>A	GRCh38
NC_000001.10:g.156106998C>A , CM000663.1:g.156106998C>A	GRCh37
NC_000001.9:g.154373622C>A	NCBI36
NG_008692.2:g.59635C>A , LRG_254:g.59635C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1025C>A	ENSP00000426535.3:p.Thr342Lys
ENST00000459904.2:n.831C>A
ENST00000498722.3:n.815C>A
ENST00000682650.1:c.1583C>A	ENSP00000506904.1:p.Thr528Lys
ENST00000683032.1:c.1583C>A	ENSP00000506771.1:p.Thr528Lys
ENST00000684195.1:c.1579+4C>A	ENSP00000508220.1:n.1579+4C>A
ENST00000361308.9:c.1583C>A	ENSP00000355292.6:p.Thr528Lys
ENST00000368300.9:c.1583C>A MANE Select	ENSP00000357283.4:p.Thr528Lys
ENST00000496738.6:n.2042C>A
ENST00000674518.1:c.*933C>A	ENSP00000502261.1:n.*933C>A
ENST00000674600.1:c.*1382C>A	ENSP00000501666.1:n.*1382C>A
ENST00000674720.1:c.*145C>A	ENSP00000502798.1:n.*145C>A
ENST00000675431.1:n.1276C>A
ENST00000675455.1:c.*1383C>A	ENSP00000501795.1:n.*1383C>A
ENST00000675667.1:c.1583C>A	ENSP00000501803.1:p.Thr528Lys
ENST00000675874.1:c.*1054C>A	ENSP00000501851.1:n.*1054C>A
ENST00000675881.1:c.*594C>A	ENSP00000501670.1:n.*594C>A
ENST00000675939.1:c.1583C>A	ENSP00000502256.1:p.Thr528Lys
ENST00000675989.1:n.2442C>A
ENST00000676208.1:c.*686C>A	ENSP00000502468.1:n.*686C>A
ENST00000676283.1:n.1958C>A
ENST00000676385.2:c.1583C>A	ENSP00000502091.1:p.Thr528Lys
ENST00000676434.1:c.*594C>A	ENSP00000501648.1:n.*594C>A
ENST00000677389.1:c.1583C>A MANE Plus Clinical	ENSP00000503633.1:p.Thr528Lys
ENST00000347559.6:c.1583C>A	ENSP00000292304.3:p.Thr528Lys
ENST00000361308.8:c.1328C>A	ENSP00000355292.5:p.Thr443Lys
ENST00000368297.5:c.1340C>A	ENSP00000357280.1:p.Thr447Lys
ENST00000368298.2:n.1415C>A
ENST00000368299.7:c.1583C>A	ENSP00000357282.3:p.Thr528Lys
ENST00000368300.8:c.1583C>A	ENSP00000357283.4:p.Thr528Lys
ENST00000368301.6:c.1583C>A	ENSP00000357284.2:p.Thr528Lys
ENST00000448611.6:c.1247C>A	ENSP00000395597.2:p.Thr416Lys
ENST00000459904.1:n.831C>A
ENST00000473598.6:c.1286C>A	ENSP00000421821.1:p.Thr429Lys
ENST00000496738.5:n.1052C>A
ENST00000498722.2:n.815C>A
ENST00000508500.1:c.461C>A	ENSP00000424977.1:p.Thr154Lys
NM_001257374.2:c.1247C>A	NP_001244303.1:p.Thr416Lys
NM_001282624.1:c.1340C>A	NP_001269553.1:p.Thr447Lys
NM_001282625.1:c.1583C>A	NP_001269554.1:p.Thr528Lys
NM_001282626.1:c.1583C>A	NP_001269555.1:p.Thr528Lys
NM_005572.3:c.1583C>A , LRG_254t1:c.1583C>A	NP_005563.1:p.Thr528Lys
NM_170707.3:c.1583C>A	NP_733821.1:p.Thr528Lys
NM_170708.3:c.1583C>A	NP_733822.1:p.Thr528Lys
XM_011509533.1:c.1247C>A	XP_011507835.1:p.Thr416Lys
XM_011509534.1:c.959C>A	XP_011507836.1:p.Thr320Lys
XR_921781.1:n.1872C>A
XM_011509534.2:c.959C>A	XP_011507836.1:p.Thr320Lys
XR_921781.2:n.1870C>A
NM_170707.4:c.1583C>A MANE Select	NP_733821.1:p.Thr528Lys
NM_001257374.3:c.1247C>A	NP_001244303.1:p.Thr416Lys
NM_001282626.2:c.1583C>A	NP_001269555.1:p.Thr528Lys
NM_001282624.2:c.1340C>A	NP_001269553.1:p.Thr447Lys
NM_001282625.2:c.1583C>A	NP_001269554.1:p.Thr528Lys
NM_005572.4:c.1583C>A MANE Plus Clinical	NP_005563.1:p.Thr528Lys
NM_170708.4:c.1583C>A	NP_733822.1:p.Thr528Lys