Canonical Allele Identifier: CA1141581072
Community Standard Title: NM_170707.4(LMNA):c.1585G= (p.Ala529=)
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137209G= , CM000663.2:g.156137209G= GRCh38
NC_000001.10:g.156107000G= , CM000663.1:g.156107000G= GRCh37
NC_000001.9:g.154373624G= NCBI36
NG_008692.2:g.59637G= , LRG_254:g.59637G=

Transcript Alleles

HGVS Amino-acid Change
NM_170707.4:c.1585G= MANE Select NP_733821.1:p.Ala529=
ENST00000368300.9:c.1585G= MANE Select ENSP00000357283.4:p.Ala529=
NM_005572.4:c.1585G= MANE Plus Clinical NP_005563.1:p.Ala529=
ENST00000677389.1:c.1585G= MANE Plus Clinical ENSP00000503633.1:p.Ala529=
NM_001257374.2:c.1249G= NP_001244303.1:p.Ala417=
NM_001257374.3:c.1249G= NP_001244303.1:p.Ala417=
NM_001282624.1:c.1342G= NP_001269553.1:p.Ala448=
NM_001282624.2:c.1342G= NP_001269553.1:p.Ala448=
NM_001282625.1:c.1585G= NP_001269554.1:p.Ala529=
NM_001282625.2:c.1585G= NP_001269554.1:p.Ala529=
NM_001282626.1:c.1585G= NP_001269555.1:p.Ala529=
NM_001282626.2:c.1585G= NP_001269555.1:p.Ala529=
NM_005572.3:c.1585G= , LRG_254t1:c.1585G= NP_005563.1:p.Ala529=
NM_170707.3:c.1585G= NP_733821.1:p.Ala529=
NM_170708.3:c.1585G= NP_733822.1:p.Ala529=
NM_170708.4:c.1585G= NP_733822.1:p.Ala529=
ENST00000347559.6:c.1585G= ENSP00000292304.3:p.Ala529=
ENST00000361308.8:c.1330G= ENSP00000355292.5:p.Ala444=
ENST00000361308.9:c.1585G= ENSP00000355292.6:p.Ala529=
ENST00000368297.5:c.1342G= ENSP00000357280.1:p.Ala448=
ENST00000368298.2:n.1417G=
ENST00000368299.7:c.1585G= ENSP00000357282.3:p.Ala529=
ENST00000368300.8:c.1585G= ENSP00000357283.4:p.Ala529=
ENST00000368301.6:c.1585G= ENSP00000357284.2:p.Ala529=
ENST00000448611.6:c.1249G= ENSP00000395597.2:p.Ala417=
ENST00000459904.1:n.833G=
ENST00000459904.2:n.833G=
ENST00000473598.6:c.1288G= ENSP00000421821.1:p.Ala430=
ENST00000496738.5:n.1054G=
ENST00000496738.6:n.2044G=
ENST00000498722.2:n.817G=
ENST00000498722.3:n.817G=
ENST00000504687.7:c.1027G= ENSP00000426535.3:p.Ala343=
ENST00000508500.1:c.463G= ENSP00000424977.1:p.Ala155=
ENST00000674518.1:c.*935G= ENSP00000502261.1:n.*935G=
ENST00000674600.1:c.*1384G= ENSP00000501666.1:n.*1384G=
ENST00000674720.1:c.*147G= ENSP00000502798.1:n.*147G=
ENST00000675431.1:n.1278G=
ENST00000675455.1:c.*1385G= ENSP00000501795.1:n.*1385G=
ENST00000675667.1:c.1585G= ENSP00000501803.1:p.Ala529=
ENST00000675874.1:c.*1056G= ENSP00000501851.1:n.*1056G=
ENST00000675881.1:c.*596G= ENSP00000501670.1:n.*596G=
ENST00000675939.1:c.1585G= ENSP00000502256.1:p.Ala529=
ENST00000675989.1:n.2444G=
ENST00000676208.1:c.*688G= ENSP00000502468.1:n.*688G=
ENST00000676283.1:n.1960G=
ENST00000676385.2:c.1585G= ENSP00000502091.1:p.Ala529=
ENST00000676434.1:c.*596G= ENSP00000501648.1:n.*596G=
ENST00000682650.1:c.1585G= ENSP00000506904.1:p.Ala529=
ENST00000683032.1:c.1585G= ENSP00000506771.1:p.Ala529=
ENST00000684195.1:c.1579+6G= ENSP00000508220.1:n.1579+6G=
XM_011509533.1:c.1249G= XP_011507835.1:p.Ala417=
XM_011509534.1:c.961G= XP_011507836.1:p.Ala321=
XM_011509534.2:c.961G= XP_011507836.1:p.Ala321=
XR_921781.1:n.1874G=
XR_921781.2:n.1872G=