Canonical Allele Identifier: CA018044

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14488
• ClinVar RCV Id: RCV000015577 ; RCV000015578 ; RCV000057399 ; RCV001387326
• dbSNP Id: rs60864230
• MyVariant Identifiers: chr1:g.156100449G>T (hg19) ; chr1:g.156130658G>T (hg38)
• PubMed: PMID:11503164 ; PMID:11792811 ; PMID:12629077 ; PMID:12927424 ; PMID:12927431 ; PMID:14615128 ; PMID:16174718 ; PMID:20301462

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130658G>T , CM000663.2:g.156130658G>T	GRCh38
NC_000001.10:g.156100449G>T , CM000663.1:g.156100449G>T	GRCh37
NC_000001.9:g.154367073G>T	NCBI36
NG_008692.2:g.53086G>T , LRG_254:g.53086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-161G>T	ENSP00000426535.3:n.-161G>T
ENST00000682650.1:c.398G>T	ENSP00000506904.1:p.Arg133Leu
ENST00000683032.1:c.398G>T	ENSP00000506771.1:p.Arg133Leu
ENST00000684195.1:c.398G>T	ENSP00000508220.1:p.Arg133Leu
ENST00000361308.9:c.398G>T	ENSP00000355292.6:p.Arg133Leu
ENST00000368300.9:c.398G>T MANE Select	ENSP00000357283.4:p.Arg133Leu
ENST00000496738.6:n.773G>T
ENST00000504687.6:c.-267G>T	ENSP00000426535.2:n.-267G>T
ENST00000674518.1:c.398G>T	ENSP00000502261.1:p.Arg133Leu
ENST00000674600.1:c.*197G>T	ENSP00000501666.1:n.*197G>T
ENST00000674720.1:c.398G>T	ENSP00000502798.1:p.Arg133Leu
ENST00000675431.1:n.91G>T
ENST00000675455.1:c.*198G>T	ENSP00000501795.1:n.*198G>T
ENST00000675667.1:c.398G>T	ENSP00000501803.1:p.Arg133Leu
ENST00000675874.1:c.357-3745G>T	ENSP00000501851.1:n.357-3745G>T
ENST00000675881.1:c.398G>T	ENSP00000501670.1:p.Arg133Leu
ENST00000675939.1:c.398G>T	ENSP00000502256.1:p.Arg133Leu
ENST00000675989.1:n.773G>T
ENST00000676208.1:c.398G>T	ENSP00000502468.1:p.Arg133Leu
ENST00000676283.1:n.773G>T
ENST00000676385.2:c.398G>T	ENSP00000502091.1:p.Arg133Leu
ENST00000676434.1:c.398G>T	ENSP00000501648.1:p.Arg133Leu
ENST00000677389.1:c.398G>T MANE Plus Clinical	ENSP00000503633.1:p.Arg133Leu
ENST00000347559.6:c.398G>T	ENSP00000292304.3:p.Arg133Leu
ENST00000361308.8:c.398G>T	ENSP00000355292.5:p.Arg133Leu
ENST00000368297.5:c.155G>T	ENSP00000357280.1:p.Arg52Leu
ENST00000368299.7:c.398G>T	ENSP00000357282.3:p.Arg133Leu
ENST00000368300.8:c.398G>T	ENSP00000357283.4:p.Arg133Leu
ENST00000368301.6:c.398G>T	ENSP00000357284.2:p.Arg133Leu
ENST00000448611.6:c.62G>T	ENSP00000395597.2:p.Arg21Leu
ENST00000469565.6:n.432G>T
ENST00000470199.2:n.357-17G>T
ENST00000473598.6:c.101G>T	ENSP00000421821.1:p.Arg34Leu
ENST00000502357.5:n.296G>T
ENST00000502751.5:n.370G>T
ENST00000504687.5:c.149G>T	ENSP00000426535.1:p.Arg50Leu
ENST00000515459.5:c.*72G>T	ENSP00000424518.1:n.*72G>T
NM_001257374.2:c.62G>T	NP_001244303.1:p.Arg21Leu
NM_001282624.1:c.155G>T	NP_001269553.1:p.Arg52Leu
NM_001282625.1:c.398G>T	NP_001269554.1:p.Arg133Leu
NM_001282626.1:c.398G>T	NP_001269555.1:p.Arg133Leu
NM_005572.3:c.398G>T , LRG_254t1:c.398G>T	NP_005563.1:p.Arg133Leu
NM_170707.3:c.398G>T	NP_733821.1:p.Arg133Leu
NM_170708.3:c.398G>T	NP_733822.1:p.Arg133Leu
XM_011509533.1:c.62G>T	XP_011507835.1:p.Arg21Leu
XM_011509534.1:c.-267G>T	XP_011507836.1:n.-267G>T
XR_921781.1:n.647G>T
XM_011509534.2:c.-267G>T	XP_011507836.1:n.-267G>T
XR_921781.2:n.645G>T
NM_170707.4:c.398G>T MANE Select	NP_733821.1:p.Arg133Leu
NM_001257374.3:c.62G>T	NP_001244303.1:p.Arg21Leu
NM_001282626.2:c.398G>T	NP_001269555.1:p.Arg133Leu
NM_001282624.2:c.155G>T	NP_001269553.1:p.Arg52Leu
NM_001282625.2:c.398G>T	NP_001269554.1:p.Arg133Leu
NM_005572.4:c.398G>T MANE Plus Clinical	NP_005563.1:p.Arg133Leu
NM_170708.4:c.398G>T	NP_733822.1:p.Arg133Leu