Canonical Allele Identifier: CA017534

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14513
• ClinVar RCV Id: RCV000057332 ; RCV000015608 ; RCV002399329 ; RCV002467496 ; RCV003234906
• dbSNP Id: rs60580541
• MyVariant Identifiers: chr1:g.156107001C>T (hg19) ; chr1:g.156137210C>T (hg38)
• PubMed: PMID:12784312 ; PMID:15998779

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137210C>T , CM000663.2:g.156137210C>T	GRCh38
NC_000001.10:g.156107001C>T , CM000663.1:g.156107001C>T	GRCh37
NC_000001.9:g.154373625C>T	NCBI36
NG_008692.2:g.59638C>T , LRG_254:g.59638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1028C>T	ENSP00000426535.3:p.Ala343Val
ENST00000459904.2:n.834C>T
ENST00000498722.3:n.818C>T
ENST00000682650.1:c.1586C>T	ENSP00000506904.1:p.Ala529Val
ENST00000683032.1:c.1586C>T	ENSP00000506771.1:p.Ala529Val
ENST00000684195.1:c.1579+7C>T	ENSP00000508220.1:n.1579+7C>T
ENST00000361308.9:c.1586C>T	ENSP00000355292.6:p.Ala529Val
ENST00000368300.9:c.1586C>T MANE Select	ENSP00000357283.4:p.Ala529Val
ENST00000496738.6:n.2045C>T
ENST00000674518.1:c.*936C>T	ENSP00000502261.1:n.*936C>T
ENST00000674600.1:c.*1385C>T	ENSP00000501666.1:n.*1385C>T
ENST00000674720.1:c.*148C>T	ENSP00000502798.1:n.*148C>T
ENST00000675431.1:n.1279C>T
ENST00000675455.1:c.*1386C>T	ENSP00000501795.1:n.*1386C>T
ENST00000675667.1:c.1586C>T	ENSP00000501803.1:p.Ala529Val
ENST00000675874.1:c.*1057C>T	ENSP00000501851.1:n.*1057C>T
ENST00000675881.1:c.*597C>T	ENSP00000501670.1:n.*597C>T
ENST00000675939.1:c.1586C>T	ENSP00000502256.1:p.Ala529Val
ENST00000675989.1:n.2445C>T
ENST00000676208.1:c.*689C>T	ENSP00000502468.1:n.*689C>T
ENST00000676283.1:n.1961C>T
ENST00000676385.2:c.1586C>T	ENSP00000502091.1:p.Ala529Val
ENST00000676434.1:c.*597C>T	ENSP00000501648.1:n.*597C>T
ENST00000677389.1:c.1586C>T MANE Plus Clinical	ENSP00000503633.1:p.Ala529Val
ENST00000347559.6:c.1586C>T	ENSP00000292304.3:p.Ala529Val
ENST00000361308.8:c.1331C>T	ENSP00000355292.5:p.Ala444Val
ENST00000368297.5:c.1343C>T	ENSP00000357280.1:p.Ala448Val
ENST00000368298.2:n.1418C>T
ENST00000368299.7:c.1586C>T	ENSP00000357282.3:p.Ala529Val
ENST00000368300.8:c.1586C>T	ENSP00000357283.4:p.Ala529Val
ENST00000368301.6:c.1586C>T	ENSP00000357284.2:p.Ala529Val
ENST00000448611.6:c.1250C>T	ENSP00000395597.2:p.Ala417Val
ENST00000459904.1:n.834C>T
ENST00000473598.6:c.1289C>T	ENSP00000421821.1:p.Ala430Val
ENST00000496738.5:n.1055C>T
ENST00000498722.2:n.818C>T
ENST00000508500.1:c.464C>T	ENSP00000424977.1:p.Ala155Val
NM_001257374.2:c.1250C>T	NP_001244303.1:p.Ala417Val
NM_001282624.1:c.1343C>T	NP_001269553.1:p.Ala448Val
NM_001282625.1:c.1586C>T	NP_001269554.1:p.Ala529Val
NM_001282626.1:c.1586C>T	NP_001269555.1:p.Ala529Val
NM_005572.3:c.1586C>T , LRG_254t1:c.1586C>T	NP_005563.1:p.Ala529Val
NM_170707.3:c.1586C>T	NP_733821.1:p.Ala529Val
NM_170708.3:c.1586C>T	NP_733822.1:p.Ala529Val
XM_011509533.1:c.1250C>T	XP_011507835.1:p.Ala417Val
XM_011509534.1:c.962C>T	XP_011507836.1:p.Ala321Val
XR_921781.1:n.1875C>T
XM_011509534.2:c.962C>T	XP_011507836.1:p.Ala321Val
XR_921781.2:n.1873C>T
NM_170707.4:c.1586C>T MANE Select	NP_733821.1:p.Ala529Val
NM_001257374.3:c.1250C>T	NP_001244303.1:p.Ala417Val
NM_001282626.2:c.1586C>T	NP_001269555.1:p.Ala529Val
NM_001282624.2:c.1343C>T	NP_001269553.1:p.Ala448Val
NM_001282625.2:c.1586C>T	NP_001269554.1:p.Ala529Val
NM_005572.4:c.1586C>T MANE Plus Clinical	NP_005563.1:p.Ala529Val
NM_170708.4:c.1586C>T	NP_733822.1:p.Ala529Val