Canonical Allele Identifier: CA342815170
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130655C>G , CM000663.2:g.156130655C>G GRCh38
NC_000001.10:g.156100446C>G , CM000663.1:g.156100446C>G GRCh37
NC_000001.9:g.154367070C>G NCBI36
NG_008692.2:g.53083C>G , LRG_254:g.53083C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.-164C>G ENSP00000426535.3:n.-164C>G
ENST00000682650.1:c.395C>G ENSP00000506904.1:p.Ala132Gly
ENST00000683032.1:c.395C>G ENSP00000506771.1:p.Ala132Gly
ENST00000684195.1:c.395C>G ENSP00000508220.1:p.Ala132Gly
ENST00000361308.9:c.395C>G ENSP00000355292.6:p.Ala132Gly
ENST00000368300.9:c.395C>G MANE Select ENSP00000357283.4:p.Ala132Gly
ENST00000496738.6:n.770C>G
ENST00000504687.6:c.-270C>G ENSP00000426535.2:n.-270C>G
ENST00000674518.1:c.395C>G ENSP00000502261.1:p.Ala132Gly
ENST00000674600.1:c.*194C>G ENSP00000501666.1:n.*194C>G
ENST00000674720.1:c.395C>G ENSP00000502798.1:p.Ala132Gly
ENST00000675431.1:n.88C>G
ENST00000675455.1:c.*195C>G ENSP00000501795.1:n.*195C>G
ENST00000675667.1:c.395C>G ENSP00000501803.1:p.Ala132Gly
ENST00000675874.1:c.357-3748C>G ENSP00000501851.1:n.357-3748C>G
ENST00000675881.1:c.395C>G ENSP00000501670.1:p.Ala132Gly
ENST00000675939.1:c.395C>G ENSP00000502256.1:p.Ala132Gly
ENST00000675989.1:n.770C>G
ENST00000676208.1:c.395C>G ENSP00000502468.1:p.Ala132Gly
ENST00000676283.1:n.770C>G
ENST00000676385.2:c.395C>G ENSP00000502091.1:p.Ala132Gly
ENST00000676434.1:c.395C>G ENSP00000501648.1:p.Ala132Gly
ENST00000677389.1:c.395C>G MANE Plus Clinical ENSP00000503633.1:p.Ala132Gly
ENST00000347559.6:c.395C>G ENSP00000292304.3:p.Ala132Gly
ENST00000361308.8:c.395C>G ENSP00000355292.5:p.Ala132Gly
ENST00000368297.5:c.152C>G ENSP00000357280.1:p.Ala51Gly
ENST00000368299.7:c.395C>G ENSP00000357282.3:p.Ala132Gly
ENST00000368300.8:c.395C>G ENSP00000357283.4:p.Ala132Gly
ENST00000368301.6:c.395C>G ENSP00000357284.2:p.Ala132Gly
ENST00000448611.6:c.59C>G ENSP00000395597.2:p.Ala20Gly
ENST00000469565.6:n.429C>G
ENST00000470199.2:n.357-20C>G
ENST00000473598.6:c.98C>G ENSP00000421821.1:p.Ala33Gly
ENST00000502357.5:n.293C>G
ENST00000502751.5:n.367C>G
ENST00000504687.5:c.146C>G ENSP00000426535.1:p.Ala49Gly
ENST00000515459.5:c.*69C>G ENSP00000424518.1:n.*69C>G
NM_001257374.2:c.59C>G NP_001244303.1:p.Ala20Gly
NM_001282624.1:c.152C>G NP_001269553.1:p.Ala51Gly
NM_001282625.1:c.395C>G NP_001269554.1:p.Ala132Gly
NM_001282626.1:c.395C>G NP_001269555.1:p.Ala132Gly
NM_005572.3:c.395C>G , LRG_254t1:c.395C>G NP_005563.1:p.Ala132Gly
NM_170707.3:c.395C>G NP_733821.1:p.Ala132Gly
NM_170708.3:c.395C>G NP_733822.1:p.Ala132Gly
XM_011509533.1:c.59C>G XP_011507835.1:p.Ala20Gly
XM_011509534.1:c.-270C>G XP_011507836.1:n.-270C>G
XR_921781.1:n.644C>G
XM_011509534.2:c.-270C>G XP_011507836.1:n.-270C>G
XR_921781.2:n.642C>G
NM_170707.4:c.395C>G MANE Select NP_733821.1:p.Ala132Gly
NM_001257374.3:c.59C>G NP_001244303.1:p.Ala20Gly
NM_001282626.2:c.395C>G NP_001269555.1:p.Ala132Gly
NM_001282624.2:c.152C>G NP_001269553.1:p.Ala51Gly
NM_001282625.2:c.395C>G NP_001269554.1:p.Ala132Gly
NM_005572.4:c.395C>G MANE Plus Clinical NP_005563.1:p.Ala132Gly
NM_170708.4:c.395C>G NP_733822.1:p.Ala132Gly