Canonical Allele Identifier: CA1200472817
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136947C= , CM000663.2:g.156136947C= GRCh38
NC_000001.10:g.156106738C= , CM000663.1:g.156106738C= GRCh37
NC_000001.9:g.154373362C= NCBI36
NG_008692.2:g.59375C= , LRG_254:g.59375C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.849C= ENSP00000426535.3:p.Ile283=
ENST00000459904.2:n.655C=
ENST00000498722.3:n.639C=
ENST00000682650.1:c.1407C= ENSP00000506904.1:p.Ile469=
ENST00000683032.1:c.1407C= ENSP00000506771.1:p.Ile469=
ENST00000684195.1:c.1407C= ENSP00000508220.1:p.Ile469=
ENST00000361308.9:c.1407C= ENSP00000355292.6:p.Ile469=
ENST00000368300.9:c.1407C= MANE Select ENSP00000357283.4:p.Ile469=
ENST00000496738.6:n.1782C=
ENST00000674518.1:c.*757C= ENSP00000502261.1:n.*757C=
ENST00000674600.1:c.*1206C= ENSP00000501666.1:n.*1206C=
ENST00000674720.1:c.1520C= ENSP00000502798.1:p.Ser507=
ENST00000675431.1:n.1100C=
ENST00000675455.1:c.*1207C= ENSP00000501795.1:n.*1207C=
ENST00000675667.1:c.1407C= ENSP00000501803.1:p.Ile469=
ENST00000675874.1:c.*878C= ENSP00000501851.1:n.*878C=
ENST00000675881.1:c.*418C= ENSP00000501670.1:n.*418C=
ENST00000675939.1:c.1407C= ENSP00000502256.1:p.Ile469=
ENST00000675989.1:n.2266C=
ENST00000676208.1:c.*510C= ENSP00000502468.1:n.*510C=
ENST00000676283.1:n.1782C=
ENST00000676385.2:c.1407C= ENSP00000502091.1:p.Ile469=
ENST00000676434.1:c.*418C= ENSP00000501648.1:n.*418C=
ENST00000677389.1:c.1407C= MANE Plus Clinical ENSP00000503633.1:p.Ile469=
ENST00000347559.6:c.1407C= ENSP00000292304.3:p.Ile469=
ENST00000361308.8:c.1312-244C= ENSP00000355292.5:n.1312-244C=
ENST00000368297.5:c.1164C= ENSP00000357280.1:p.Ile388=
ENST00000368298.2:n.1155C=
ENST00000368299.7:c.1407C= ENSP00000357282.3:p.Ile469=
ENST00000368300.8:c.1407C= ENSP00000357283.4:p.Ile469=
ENST00000368301.6:c.1407C= ENSP00000357284.2:p.Ile469=
ENST00000448611.6:c.1071C= ENSP00000395597.2:p.Ile357=
ENST00000459904.1:n.655C=
ENST00000473598.6:c.1110C= ENSP00000421821.1:p.Ile370=
ENST00000496738.5:n.792C=
ENST00000498722.2:n.639C=
ENST00000508500.1:c.285C= ENSP00000424977.1:p.Ile95=
NM_001257374.2:c.1071C= NP_001244303.1:p.Ile357=
NM_001282624.1:c.1164C= NP_001269553.1:p.Ile388=
NM_001282625.1:c.1407C= NP_001269554.1:p.Ile469=
NM_001282626.1:c.1407C= NP_001269555.1:p.Ile469=
NM_005572.3:c.1407C= , LRG_254t1:c.1407C= NP_005563.1:p.Ile469=
NM_170707.3:c.1407C= NP_733821.1:p.Ile469=
NM_170708.3:c.1407C= NP_733822.1:p.Ile469=
XM_011509533.1:c.1071C= XP_011507835.1:p.Ile357=
XM_011509534.1:c.783C= XP_011507836.1:p.Ile261=
XR_921781.1:n.1696C=
XM_011509534.2:c.783C= XP_011507836.1:p.Ile261=
XR_921781.2:n.1694C=
NM_170707.4:c.1407C= MANE Select NP_733821.1:p.Ile469=
NM_001257374.3:c.1071C= NP_001244303.1:p.Ile357=
NM_001282626.2:c.1407C= NP_001269555.1:p.Ile469=
NM_001282624.2:c.1164C= NP_001269553.1:p.Ile388=
NM_001282625.2:c.1407C= NP_001269554.1:p.Ile469=
NM_005572.4:c.1407C= MANE Plus Clinical NP_005563.1:p.Ile469=
NM_170708.4:c.1407C= NP_733822.1:p.Ile469=