Canonical Allele Identifier: CA053826

Gene: LMNA

Linked Data

• ClinVar Variation Id: 640948
• ClinVar RCV Id: RCV000794088 ; RCV004001584
• dbSNP Id: rs777419380
• ExAC: 1:156104278 A / G
• gnomAD v2: 1-156104278-A-G
• gnomAD v3: 1-156134487-A-G
• gnomAD v4: 1-156134487-A-G
• MyVariant Identifiers: chr1:g.156104278A>G (hg19) ; chr1:g.156134487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134487A>G , CM000663.2:g.156134487A>G	GRCh38
NC_000001.10:g.156104278A>G , CM000663.1:g.156104278A>G	GRCh37
NC_000001.9:g.154370902A>G	NCBI36
NG_008692.2:g.56915A>G , LRG_254:g.56915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.40A>G	ENSP00000426535.3:p.Met14Val
ENST00000682650.1:c.598A>G	ENSP00000506904.1:p.Met200Val
ENST00000683032.1:c.598A>G	ENSP00000506771.1:p.Met200Val
ENST00000684195.1:c.598A>G	ENSP00000508220.1:p.Met200Val
ENST00000361308.9:c.598A>G	ENSP00000355292.6:p.Met200Val
ENST00000368300.9:c.598A>G MANE Select	ENSP00000357283.4:p.Met200Val
ENST00000496738.6:n.973A>G
ENST00000504687.6:c.-67A>G	ENSP00000426535.2:n.-67A>G
ENST00000674518.1:c.598A>G	ENSP00000502261.1:p.Met200Val
ENST00000674600.1:c.*397A>G	ENSP00000501666.1:n.*397A>G
ENST00000674720.1:c.598A>G	ENSP00000502798.1:p.Met200Val
ENST00000675431.1:n.291A>G
ENST00000675455.1:c.*398A>G	ENSP00000501795.1:n.*398A>G
ENST00000675667.1:c.598A>G	ENSP00000501803.1:p.Met200Val
ENST00000675874.1:c.*69A>G	ENSP00000501851.1:n.*69A>G
ENST00000675881.1:c.598A>G	ENSP00000501670.1:p.Met200Val
ENST00000675939.1:c.598A>G	ENSP00000502256.1:p.Met200Val
ENST00000675989.1:n.973A>G
ENST00000676208.1:c.598A>G	ENSP00000502468.1:p.Met200Val
ENST00000676283.1:n.973A>G
ENST00000676385.2:c.598A>G	ENSP00000502091.1:p.Met200Val
ENST00000676434.1:c.598A>G	ENSP00000501648.1:p.Met200Val
ENST00000677389.1:c.598A>G MANE Plus Clinical	ENSP00000503633.1:p.Met200Val
ENST00000347559.6:c.598A>G	ENSP00000292304.3:p.Met200Val
ENST00000361308.8:c.598A>G	ENSP00000355292.5:p.Met200Val
ENST00000368297.5:c.355A>G	ENSP00000357280.1:p.Met119Val
ENST00000368299.7:c.598A>G	ENSP00000357282.3:p.Met200Val
ENST00000368300.8:c.598A>G	ENSP00000357283.4:p.Met200Val
ENST00000368301.6:c.598A>G	ENSP00000357284.2:p.Met200Val
ENST00000448611.6:c.262A>G	ENSP00000395597.2:p.Met88Val
ENST00000470199.2:n.540A>G
ENST00000473598.6:c.301A>G	ENSP00000421821.1:p.Met101Val
ENST00000502357.5:n.496A>G
ENST00000502751.5:n.570A>G
ENST00000504687.5:c.349A>G	ENSP00000426535.1:p.Met117Val
ENST00000515459.5:c.*272A>G	ENSP00000424518.1:n.*272A>G
NM_001257374.2:c.262A>G	NP_001244303.1:p.Met88Val
NM_001282624.1:c.355A>G	NP_001269553.1:p.Met119Val
NM_001282625.1:c.598A>G	NP_001269554.1:p.Met200Val
NM_001282626.1:c.598A>G	NP_001269555.1:p.Met200Val
NM_005572.3:c.598A>G , LRG_254t1:c.598A>G	NP_005563.1:p.Met200Val
NM_170707.3:c.598A>G	NP_733821.1:p.Met200Val
NM_170708.3:c.598A>G	NP_733822.1:p.Met200Val
XM_011509533.1:c.262A>G	XP_011507835.1:p.Met88Val
XM_011509534.1:c.-67A>G	XP_011507836.1:n.-67A>G
XR_921781.1:n.847A>G
XM_011509534.2:c.-67A>G	XP_011507836.1:n.-67A>G
XR_921781.2:n.845A>G
NM_170707.4:c.598A>G MANE Select	NP_733821.1:p.Met200Val
NM_001257374.3:c.262A>G	NP_001244303.1:p.Met88Val
NM_001282626.2:c.598A>G	NP_001269555.1:p.Met200Val
NM_001282624.2:c.355A>G	NP_001269553.1:p.Met119Val
NM_001282625.2:c.598A>G	NP_001269554.1:p.Met200Val
NM_005572.4:c.598A>G MANE Plus Clinical	NP_005563.1:p.Met200Val
NM_170708.4:c.598A>G	NP_733822.1:p.Met200Val