Canonical Allele Identifier: CA018251

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66910
• ClinVar RCV Id: RCV000057421 ; RCV000653887 ; RCV000619042 ; RCV000768712 ; RCV001449792 ; RCV003447483
• dbSNP Id: rs267607571
• gnomAD v4: 1-156134458-G-A
• COSMIC: COSM1472743 ; COSM5229102
• MyVariant Identifiers: chr1:g.156104249G>A (hg19) ; chr1:g.156134458G>A (hg38)
• PubMed: PMID:15744034 ; PMID:18585512 ; PMID:18795223 ; PMID:20160190 ; PMID:26899768 ; PMID:28069705

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134458G>A , CM000663.2:g.156134458G>A	GRCh38
NC_000001.10:g.156104249G>A , CM000663.1:g.156104249G>A	GRCh37
NC_000001.9:g.154370873G>A	NCBI36
NG_008692.2:g.56886G>A , LRG_254:g.56886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.11G>A	ENSP00000426535.3:p.Arg4Gln
ENST00000682650.1:c.569G>A	ENSP00000506904.1:p.Arg190Gln
ENST00000683032.1:c.569G>A	ENSP00000506771.1:p.Arg190Gln
ENST00000684195.1:c.569G>A	ENSP00000508220.1:p.Arg190Gln
ENST00000361308.9:c.569G>A	ENSP00000355292.6:p.Arg190Gln
ENST00000368300.9:c.569G>A MANE Select	ENSP00000357283.4:p.Arg190Gln
ENST00000496738.6:n.944G>A
ENST00000504687.6:c.-96G>A	ENSP00000426535.2:n.-96G>A
ENST00000674518.1:c.569G>A	ENSP00000502261.1:p.Arg190Gln
ENST00000674600.1:c.*368G>A	ENSP00000501666.1:n.*368G>A
ENST00000674720.1:c.569G>A	ENSP00000502798.1:p.Arg190Gln
ENST00000675431.1:n.262G>A
ENST00000675455.1:c.*369G>A	ENSP00000501795.1:n.*369G>A
ENST00000675667.1:c.569G>A	ENSP00000501803.1:p.Arg190Gln
ENST00000675874.1:c.*40G>A	ENSP00000501851.1:n.*40G>A
ENST00000675881.1:c.569G>A	ENSP00000501670.1:p.Arg190Gln
ENST00000675939.1:c.569G>A	ENSP00000502256.1:p.Arg190Gln
ENST00000675989.1:n.944G>A
ENST00000676208.1:c.569G>A	ENSP00000502468.1:p.Arg190Gln
ENST00000676283.1:n.944G>A
ENST00000676385.2:c.569G>A	ENSP00000502091.1:p.Arg190Gln
ENST00000676434.1:c.569G>A	ENSP00000501648.1:p.Arg190Gln
ENST00000677389.1:c.569G>A MANE Plus Clinical	ENSP00000503633.1:p.Arg190Gln
ENST00000347559.6:c.569G>A	ENSP00000292304.3:p.Arg190Gln
ENST00000361308.8:c.569G>A	ENSP00000355292.5:p.Arg190Gln
ENST00000368297.5:c.326G>A	ENSP00000357280.1:p.Arg109Gln
ENST00000368299.7:c.569G>A	ENSP00000357282.3:p.Arg190Gln
ENST00000368300.8:c.569G>A	ENSP00000357283.4:p.Arg190Gln
ENST00000368301.6:c.569G>A	ENSP00000357284.2:p.Arg190Gln
ENST00000448611.6:c.233G>A	ENSP00000395597.2:p.Arg78Gln
ENST00000470199.2:n.511G>A
ENST00000473598.6:c.272G>A	ENSP00000421821.1:p.Arg91Gln
ENST00000502357.5:n.467G>A
ENST00000502751.5:n.541G>A
ENST00000504687.5:c.320G>A	ENSP00000426535.1:p.Arg107Gln
ENST00000515459.5:c.*243G>A	ENSP00000424518.1:n.*243G>A
NM_001257374.2:c.233G>A	NP_001244303.1:p.Arg78Gln
NM_001282624.1:c.326G>A	NP_001269553.1:p.Arg109Gln
NM_001282625.1:c.569G>A	NP_001269554.1:p.Arg190Gln
NM_001282626.1:c.569G>A	NP_001269555.1:p.Arg190Gln
NM_005572.3:c.569G>A , LRG_254t1:c.569G>A	NP_005563.1:p.Arg190Gln
NM_170707.3:c.569G>A	NP_733821.1:p.Arg190Gln
NM_170708.3:c.569G>A	NP_733822.1:p.Arg190Gln
XM_011509533.1:c.233G>A	XP_011507835.1:p.Arg78Gln
XM_011509534.1:c.-96G>A	XP_011507836.1:n.-96G>A
XR_921781.1:n.818G>A
XM_011509534.2:c.-96G>A	XP_011507836.1:n.-96G>A
XR_921781.2:n.816G>A
NM_170707.4:c.569G>A MANE Select	NP_733821.1:p.Arg190Gln
NM_001257374.3:c.233G>A	NP_001244303.1:p.Arg78Gln
NM_001282626.2:c.569G>A	NP_001269555.1:p.Arg190Gln
NM_001282624.2:c.326G>A	NP_001269553.1:p.Arg109Gln
NM_001282625.2:c.569G>A	NP_001269554.1:p.Arg190Gln
NM_005572.4:c.569G>A MANE Plus Clinical	NP_005563.1:p.Arg190Gln
NM_170708.4:c.569G>A	NP_733822.1:p.Arg190Gln