Canonical Allele Identifier: CA342823494
Community Standard Title: NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137206A>C , CM000663.2:g.156137206A>C GRCh38
NC_000001.10:g.156106997A>C , CM000663.1:g.156106997A>C GRCh37
NC_000001.9:g.154373621A>C NCBI36
NG_008692.2:g.59634A>C , LRG_254:g.59634A>C

Transcript Alleles

HGVS Amino-acid Change
NM_170707.4:c.1582A>C MANE Select NP_733821.1:p.Thr528Pro
ENST00000368300.9:c.1582A>C MANE Select ENSP00000357283.4:p.Thr528Pro
NM_005572.4:c.1582A>C MANE Plus Clinical NP_005563.1:p.Thr528Pro
ENST00000677389.1:c.1582A>C MANE Plus Clinical ENSP00000503633.1:p.Thr528Pro
NM_001257374.2:c.1246A>C NP_001244303.1:p.Thr416Pro
NM_001257374.3:c.1246A>C NP_001244303.1:p.Thr416Pro
NM_001282624.1:c.1339A>C NP_001269553.1:p.Thr447Pro
NM_001282624.2:c.1339A>C NP_001269553.1:p.Thr447Pro
NM_001282625.1:c.1582A>C NP_001269554.1:p.Thr528Pro
NM_001282625.2:c.1582A>C NP_001269554.1:p.Thr528Pro
NM_001282626.1:c.1582A>C NP_001269555.1:p.Thr528Pro
NM_001282626.2:c.1582A>C NP_001269555.1:p.Thr528Pro
NM_005572.3:c.1582A>C , LRG_254t1:c.1582A>C NP_005563.1:p.Thr528Pro
NM_170707.3:c.1582A>C NP_733821.1:p.Thr528Pro
NM_170708.3:c.1582A>C NP_733822.1:p.Thr528Pro
NM_170708.4:c.1582A>C NP_733822.1:p.Thr528Pro
ENST00000347559.6:c.1582A>C ENSP00000292304.3:p.Thr528Pro
ENST00000361308.8:c.1327A>C ENSP00000355292.5:p.Thr443Pro
ENST00000361308.9:c.1582A>C ENSP00000355292.6:p.Thr528Pro
ENST00000368297.5:c.1339A>C ENSP00000357280.1:p.Thr447Pro
ENST00000368298.2:n.1414A>C
ENST00000368299.7:c.1582A>C ENSP00000357282.3:p.Thr528Pro
ENST00000368300.8:c.1582A>C ENSP00000357283.4:p.Thr528Pro
ENST00000368301.6:c.1582A>C ENSP00000357284.2:p.Thr528Pro
ENST00000448611.6:c.1246A>C ENSP00000395597.2:p.Thr416Pro
ENST00000459904.1:n.830A>C
ENST00000459904.2:n.830A>C
ENST00000473598.6:c.1285A>C ENSP00000421821.1:p.Thr429Pro
ENST00000496738.5:n.1051A>C
ENST00000496738.6:n.2041A>C
ENST00000498722.2:n.814A>C
ENST00000498722.3:n.814A>C
ENST00000504687.7:c.1024A>C ENSP00000426535.3:p.Thr342Pro
ENST00000508500.1:c.460A>C ENSP00000424977.1:p.Thr154Pro
ENST00000674518.1:c.*932A>C ENSP00000502261.1:n.*932A>C
ENST00000674600.1:c.*1381A>C ENSP00000501666.1:n.*1381A>C
ENST00000674720.1:c.*144A>C ENSP00000502798.1:n.*144A>C
ENST00000675431.1:n.1275A>C
ENST00000675455.1:c.*1382A>C ENSP00000501795.1:n.*1382A>C
ENST00000675667.1:c.1582A>C ENSP00000501803.1:p.Thr528Pro
ENST00000675874.1:c.*1053A>C ENSP00000501851.1:n.*1053A>C
ENST00000675881.1:c.*593A>C ENSP00000501670.1:n.*593A>C
ENST00000675939.1:c.1582A>C ENSP00000502256.1:p.Thr528Pro
ENST00000675989.1:n.2441A>C
ENST00000676208.1:c.*685A>C ENSP00000502468.1:n.*685A>C
ENST00000676283.1:n.1957A>C
ENST00000676385.2:c.1582A>C ENSP00000502091.1:p.Thr528Pro
ENST00000676434.1:c.*593A>C ENSP00000501648.1:n.*593A>C
ENST00000682650.1:c.1582A>C ENSP00000506904.1:p.Thr528Pro
ENST00000683032.1:c.1582A>C ENSP00000506771.1:p.Thr528Pro
ENST00000684195.1:c.1579+3A>C ENSP00000508220.1:n.1579+3A>C
XM_011509533.1:c.1246A>C XP_011507835.1:p.Thr416Pro
XM_011509534.1:c.958A>C XP_011507836.1:p.Thr320Pro
XM_011509534.2:c.958A>C XP_011507836.1:p.Thr320Pro
XR_921781.1:n.1871A>C
XR_921781.2:n.1869A>C