Canonical Allele Identifier: CA421069209
Community Standard Title: NM_170707.4(LMNA):c.1608A>G (p.Glu536=)
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137232A>G , CM000663.2:g.156137232A>G GRCh38
NC_000001.10:g.156107023A>G , CM000663.1:g.156107023A>G GRCh37
NC_000001.9:g.154373647A>G NCBI36
NG_008692.2:g.59660A>G , LRG_254:g.59660A>G

Transcript Alleles

HGVS Amino-acid Change
NM_170707.4:c.1608A>G MANE Select NP_733821.1:p.Glu536=
ENST00000368300.9:c.1608A>G MANE Select ENSP00000357283.4:p.Glu536=
NM_005572.4:c.1608A>G MANE Plus Clinical NP_005563.1:p.Glu536=
ENST00000677389.1:c.1608A>G MANE Plus Clinical ENSP00000503633.1:p.Glu536=
NM_001257374.2:c.1272A>G NP_001244303.1:p.Glu424=
NM_001257374.3:c.1272A>G NP_001244303.1:p.Glu424=
NM_001282624.1:c.1365A>G NP_001269553.1:p.Glu455=
NM_001282624.2:c.1365A>G NP_001269553.1:p.Glu455=
NM_001282625.1:c.1608A>G NP_001269554.1:p.Glu536=
NM_001282625.2:c.1608A>G NP_001269554.1:p.Glu536=
NM_001282626.1:c.1608A>G NP_001269555.1:p.Glu536=
NM_001282626.2:c.1608A>G NP_001269555.1:p.Glu536=
NM_005572.3:c.1608A>G , LRG_254t1:c.1608A>G NP_005563.1:p.Glu536=
NM_170707.3:c.1608A>G NP_733821.1:p.Glu536=
NM_170708.3:c.1608A>G NP_733822.1:p.Glu536=
NM_170708.4:c.1608A>G NP_733822.1:p.Glu536=
ENST00000347559.6:c.1608A>G ENSP00000292304.3:p.Glu536=
ENST00000361308.8:c.1353A>G ENSP00000355292.5:p.Glu451=
ENST00000361308.9:c.1608A>G ENSP00000355292.6:p.Glu536=
ENST00000368297.5:c.1365A>G ENSP00000357280.1:p.Glu455=
ENST00000368298.2:n.1440A>G
ENST00000368299.7:c.1608A>G ENSP00000357282.3:p.Glu536=
ENST00000368300.8:c.1608A>G ENSP00000357283.4:p.Glu536=
ENST00000368301.6:c.1608A>G ENSP00000357284.2:p.Glu536=
ENST00000448611.6:c.1272A>G ENSP00000395597.2:p.Glu424=
ENST00000459904.1:n.856A>G
ENST00000459904.2:n.856A>G
ENST00000473598.6:c.1311A>G ENSP00000421821.1:p.Glu437=
ENST00000496738.5:n.1077A>G
ENST00000496738.6:n.2067A>G
ENST00000498722.2:n.840A>G
ENST00000498722.3:n.840A>G
ENST00000504687.7:c.1050A>G ENSP00000426535.3:p.Glu350=
ENST00000508500.1:c.486A>G ENSP00000424977.1:p.Glu162=
ENST00000674518.1:c.*958A>G ENSP00000502261.1:n.*958A>G
ENST00000674600.1:c.*1407A>G ENSP00000501666.1:n.*1407A>G
ENST00000674720.1:c.*170A>G ENSP00000502798.1:n.*170A>G
ENST00000675431.1:n.1301A>G
ENST00000675455.1:c.*1408A>G ENSP00000501795.1:n.*1408A>G
ENST00000675667.1:c.1608A>G ENSP00000501803.1:p.Glu536=
ENST00000675874.1:c.*1079A>G ENSP00000501851.1:n.*1079A>G
ENST00000675881.1:c.*619A>G ENSP00000501670.1:n.*619A>G
ENST00000675939.1:c.1608A>G ENSP00000502256.1:p.Glu536=
ENST00000675989.1:n.2467A>G
ENST00000676208.1:c.*711A>G ENSP00000502468.1:n.*711A>G
ENST00000676283.1:n.1983A>G
ENST00000676385.2:c.1608A>G ENSP00000502091.1:p.Glu536=
ENST00000676434.1:c.*619A>G ENSP00000501648.1:n.*619A>G
ENST00000682650.1:c.1608A>G ENSP00000506904.1:p.Glu536=
ENST00000683032.1:c.1608A>G ENSP00000506771.1:p.Glu536=
ENST00000684195.1:c.1579+29A>G ENSP00000508220.1:n.1579+29A>G
XM_011509533.1:c.1272A>G XP_011507835.1:p.Glu424=
XM_011509534.1:c.984A>G XP_011507836.1:p.Glu328=
XM_011509534.2:c.984A>G XP_011507836.1:p.Glu328=
XR_921781.1:n.1897A>G
XR_921781.2:n.1895A>G