Canonical Allele Identifier: CA1148454087
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137214C= , CM000663.2:g.156137214C= GRCh38
NC_000001.10:g.156107005C= , CM000663.1:g.156107005C= GRCh37
NC_000001.9:g.154373629C= NCBI36
NG_008692.2:g.59642C= , LRG_254:g.59642C=

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1032C= ENSP00000426535.3:p.Leu344=
ENST00000459904.2:n.838C=
ENST00000498722.3:n.822C=
ENST00000682650.1:c.1590C= ENSP00000506904.1:p.Leu530=
ENST00000683032.1:c.1590C= ENSP00000506771.1:p.Leu530=
ENST00000684195.1:c.1579+11C= ENSP00000508220.1:n.1579+11C=
ENST00000361308.9:c.1590C= ENSP00000355292.6:p.Leu530=
ENST00000368300.9:c.1590C= MANE Select ENSP00000357283.4:p.Leu530=
ENST00000496738.6:n.2049C=
ENST00000674518.1:c.*940C= ENSP00000502261.1:n.*940C=
ENST00000674600.1:c.*1389C= ENSP00000501666.1:n.*1389C=
ENST00000674720.1:c.*152C= ENSP00000502798.1:n.*152C=
ENST00000675431.1:n.1283C=
ENST00000675455.1:c.*1390C= ENSP00000501795.1:n.*1390C=
ENST00000675667.1:c.1590C= ENSP00000501803.1:p.Leu530=
ENST00000675874.1:c.*1061C= ENSP00000501851.1:n.*1061C=
ENST00000675881.1:c.*601C= ENSP00000501670.1:n.*601C=
ENST00000675939.1:c.1590C= ENSP00000502256.1:p.Leu530=
ENST00000675989.1:n.2449C=
ENST00000676208.1:c.*693C= ENSP00000502468.1:n.*693C=
ENST00000676283.1:n.1965C=
ENST00000676385.2:c.1590C= ENSP00000502091.1:p.Leu530=
ENST00000676434.1:c.*601C= ENSP00000501648.1:n.*601C=
ENST00000677389.1:c.1590C= MANE Plus Clinical ENSP00000503633.1:p.Leu530=
ENST00000347559.6:c.1590C= ENSP00000292304.3:p.Leu530=
ENST00000361308.8:c.1335C= ENSP00000355292.5:p.Leu445=
ENST00000368297.5:c.1347C= ENSP00000357280.1:p.Leu449=
ENST00000368298.2:n.1422C=
ENST00000368299.7:c.1590C= ENSP00000357282.3:p.Leu530=
ENST00000368300.8:c.1590C= ENSP00000357283.4:p.Leu530=
ENST00000368301.6:c.1590C= ENSP00000357284.2:p.Leu530=
ENST00000448611.6:c.1254C= ENSP00000395597.2:p.Leu418=
ENST00000459904.1:n.838C=
ENST00000473598.6:c.1293C= ENSP00000421821.1:p.Leu431=
ENST00000496738.5:n.1059C=
ENST00000498722.2:n.822C=
ENST00000508500.1:c.468C= ENSP00000424977.1:p.Leu156=
NM_001257374.2:c.1254C= NP_001244303.1:p.Leu418=
NM_001282624.1:c.1347C= NP_001269553.1:p.Leu449=
NM_001282625.1:c.1590C= NP_001269554.1:p.Leu530=
NM_001282626.1:c.1590C= NP_001269555.1:p.Leu530=
NM_005572.3:c.1590C= , LRG_254t1:c.1590C= NP_005563.1:p.Leu530=
NM_170707.3:c.1590C= NP_733821.1:p.Leu530=
NM_170708.3:c.1590C= NP_733822.1:p.Leu530=
XM_011509533.1:c.1254C= XP_011507835.1:p.Leu418=
XM_011509534.1:c.966C= XP_011507836.1:p.Leu322=
XR_921781.1:n.1879C=
XM_011509534.2:c.966C= XP_011507836.1:p.Leu322=
XR_921781.2:n.1877C=
NM_170707.4:c.1590C= MANE Select NP_733821.1:p.Leu530=
NM_001257374.3:c.1254C= NP_001244303.1:p.Leu418=
NM_001282626.2:c.1590C= NP_001269555.1:p.Leu530=
NM_001282624.2:c.1347C= NP_001269553.1:p.Leu449=
NM_001282625.2:c.1590C= NP_001269554.1:p.Leu530=
NM_005572.4:c.1590C= MANE Plus Clinical NP_005563.1:p.Leu530=
NM_170708.4:c.1590C= NP_733822.1:p.Leu530=