Canonical Allele Identifier: CA342822522
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136950G>C , CM000663.2:g.156136950G>C GRCh38
NC_000001.10:g.156106741G>C , CM000663.1:g.156106741G>C GRCh37
NC_000001.9:g.154373365G>C NCBI36
NG_008692.2:g.59378G>C , LRG_254:g.59378G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.852G>C ENSP00000426535.3:p.Lys284Asn
ENST00000459904.2:n.658G>C
ENST00000498722.3:n.642G>C
ENST00000682650.1:c.1410G>C ENSP00000506904.1:p.Lys470Asn
ENST00000683032.1:c.1410G>C ENSP00000506771.1:p.Lys470Asn
ENST00000684195.1:c.1410G>C ENSP00000508220.1:p.Lys470Asn
ENST00000361308.9:c.1410G>C ENSP00000355292.6:p.Lys470Asn
ENST00000368300.9:c.1410G>C MANE Select ENSP00000357283.4:p.Lys470Asn
ENST00000496738.6:n.1785G>C
ENST00000674518.1:c.*760G>C ENSP00000502261.1:n.*760G>C
ENST00000674600.1:c.*1209G>C ENSP00000501666.1:n.*1209G>C
ENST00000674720.1:c.1523G>C ENSP00000502798.1:p.Ser508Thr
ENST00000675431.1:n.1103G>C
ENST00000675455.1:c.*1210G>C ENSP00000501795.1:n.*1210G>C
ENST00000675667.1:c.1410G>C ENSP00000501803.1:p.Lys470Asn
ENST00000675874.1:c.*881G>C ENSP00000501851.1:n.*881G>C
ENST00000675881.1:c.*421G>C ENSP00000501670.1:n.*421G>C
ENST00000675939.1:c.1410G>C ENSP00000502256.1:p.Lys470Asn
ENST00000675989.1:n.2269G>C
ENST00000676208.1:c.*513G>C ENSP00000502468.1:n.*513G>C
ENST00000676283.1:n.1785G>C
ENST00000676385.2:c.1410G>C ENSP00000502091.1:p.Lys470Asn
ENST00000676434.1:c.*421G>C ENSP00000501648.1:n.*421G>C
ENST00000677389.1:c.1410G>C MANE Plus Clinical ENSP00000503633.1:p.Lys470Asn
ENST00000347559.6:c.1410G>C ENSP00000292304.3:p.Lys470Asn
ENST00000361308.8:c.1312-241G>C ENSP00000355292.5:n.1312-241G>C
ENST00000368297.5:c.1167G>C ENSP00000357280.1:p.Lys389Asn
ENST00000368298.2:n.1158G>C
ENST00000368299.7:c.1410G>C ENSP00000357282.3:p.Lys470Asn
ENST00000368300.8:c.1410G>C ENSP00000357283.4:p.Lys470Asn
ENST00000368301.6:c.1410G>C ENSP00000357284.2:p.Lys470Asn
ENST00000448611.6:c.1074G>C ENSP00000395597.2:p.Lys358Asn
ENST00000459904.1:n.658G>C
ENST00000473598.6:c.1113G>C ENSP00000421821.1:p.Lys371Asn
ENST00000496738.5:n.795G>C
ENST00000498722.2:n.642G>C
ENST00000508500.1:c.288G>C ENSP00000424977.1:p.Lys96Asn
NM_001257374.2:c.1074G>C NP_001244303.1:p.Lys358Asn
NM_001282624.1:c.1167G>C NP_001269553.1:p.Lys389Asn
NM_001282625.1:c.1410G>C NP_001269554.1:p.Lys470Asn
NM_001282626.1:c.1410G>C NP_001269555.1:p.Lys470Asn
NM_005572.3:c.1410G>C , LRG_254t1:c.1410G>C NP_005563.1:p.Lys470Asn
NM_170707.3:c.1410G>C NP_733821.1:p.Lys470Asn
NM_170708.3:c.1410G>C NP_733822.1:p.Lys470Asn
XM_011509533.1:c.1074G>C XP_011507835.1:p.Lys358Asn
XM_011509534.1:c.786G>C XP_011507836.1:p.Lys262Asn
XR_921781.1:n.1699G>C
XM_011509534.2:c.786G>C XP_011507836.1:p.Lys262Asn
XR_921781.2:n.1697G>C
NM_170707.4:c.1410G>C MANE Select NP_733821.1:p.Lys470Asn
NM_001257374.3:c.1074G>C NP_001244303.1:p.Lys358Asn
NM_001282626.2:c.1410G>C NP_001269555.1:p.Lys470Asn
NM_001282624.2:c.1167G>C NP_001269553.1:p.Lys389Asn
NM_001282625.2:c.1410G>C NP_001269554.1:p.Lys470Asn
NM_005572.4:c.1410G>C MANE Plus Clinical NP_005563.1:p.Lys470Asn
NM_170708.4:c.1410G>C NP_733822.1:p.Lys470Asn