Canonical Allele Identifier: CA342825319
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137658T>G , CM000663.2:g.156137658T>G GRCh38
NC_000001.10:g.156107449T>G , CM000663.1:g.156107449T>G GRCh37
NC_000001.9:g.154374073T>G NCBI36
NG_008692.2:g.60086T>G , LRG_254:g.60086T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1055T>G ENSP00000426535.3:p.Val352Gly
ENST00000498722.3:n.845T>G
ENST00000682650.1:c.1608+426T>G ENSP00000506904.1:n.1608+426T>G
ENST00000683032.1:c.1613T>G ENSP00000506771.1:p.Val538Gly
ENST00000684195.1:c.1584T>G ENSP00000508220.1:p.Ser528Arg
ENST00000361308.9:c.1613T>G ENSP00000355292.6:p.Val538Gly
ENST00000368300.9:c.1613T>G MANE Select ENSP00000357283.4:p.Val538Gly
ENST00000496738.6:n.2072T>G
ENST00000674518.1:c.*963T>G ENSP00000502261.1:n.*963T>G
ENST00000674600.1:c.*1412T>G ENSP00000501666.1:n.*1412T>G
ENST00000674720.1:c.*175T>G ENSP00000502798.1:n.*175T>G
ENST00000675431.1:n.1306T>G
ENST00000675455.1:c.*1413T>G ENSP00000501795.1:n.*1413T>G
ENST00000675667.1:c.1613T>G ENSP00000501803.1:p.Val538Gly
ENST00000675874.1:c.*1084T>G ENSP00000501851.1:n.*1084T>G
ENST00000675881.1:c.*624T>G ENSP00000501670.1:n.*624T>G
ENST00000675939.1:c.1613T>G ENSP00000502256.1:p.Val538Gly
ENST00000675989.1:n.2472T>G
ENST00000676208.1:c.*716T>G ENSP00000502468.1:n.*716T>G
ENST00000676283.1:n.2409T>G
ENST00000676385.2:c.1608+426T>G ENSP00000502091.1:n.1608+426T>G
ENST00000676434.1:c.*624T>G ENSP00000501648.1:n.*624T>G
ENST00000677389.1:c.1613T>G MANE Plus Clinical ENSP00000503633.1:p.Val538Gly
ENST00000347559.6:c.1608+426T>G ENSP00000292304.3:n.1608+426T>G
ENST00000361308.8:c.1358T>G ENSP00000355292.5:p.Val453Gly
ENST00000368297.5:c.1370T>G ENSP00000357280.1:p.Val457Gly
ENST00000368299.7:c.1613T>G ENSP00000357282.3:p.Val538Gly
ENST00000368300.8:c.1613T>G ENSP00000357283.4:p.Val538Gly
ENST00000368301.6:c.1613T>G ENSP00000357284.2:p.Val538Gly
ENST00000448611.6:c.1277T>G ENSP00000395597.2:p.Val426Gly
ENST00000473598.6:c.1316T>G ENSP00000421821.1:p.Val439Gly
ENST00000496738.5:n.1082T>G
ENST00000498722.2:n.845T>G
ENST00000506981.1:n.197T>G
ENST00000508500.1:c.486+426T>G ENSP00000424977.1:n.486+426T>G
NM_001257374.2:c.1277T>G NP_001244303.1:p.Val426Gly
NM_001282624.1:c.1370T>G NP_001269553.1:p.Val457Gly
NM_001282625.1:c.1613T>G NP_001269554.1:p.Val538Gly
NM_001282626.1:c.1613T>G NP_001269555.1:p.Val538Gly
NM_005572.3:c.1613T>G , LRG_254t1:c.1613T>G NP_005563.1:p.Val538Gly
NM_170707.3:c.1613T>G NP_733821.1:p.Val538Gly
NM_170708.3:c.1608+426T>G NP_733822.1:n.1608+426T>G
XM_011509533.1:c.1277T>G XP_011507835.1:p.Val426Gly
XM_011509534.1:c.989T>G XP_011507836.1:p.Val330Gly
XR_921781.1:n.1902T>G
XM_011509534.2:c.989T>G XP_011507836.1:p.Val330Gly
XR_921781.2:n.1900T>G
NM_170707.4:c.1613T>G MANE Select NP_733821.1:p.Val538Gly
NM_001257374.3:c.1277T>G NP_001244303.1:p.Val426Gly
NM_001282626.2:c.1613T>G NP_001269555.1:p.Val538Gly
NM_001282624.2:c.1370T>G NP_001269553.1:p.Val457Gly
NM_001282625.2:c.1613T>G NP_001269554.1:p.Val538Gly
NM_005572.4:c.1613T>G MANE Plus Clinical NP_005563.1:p.Val538Gly
NM_170708.4:c.1608+426T>G NP_733822.1:n.1608+426T>G