Canonical Allele Identifier: CA014882
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 14527
dbSNP Id: rs142000963
COSMIC: COSM897122

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138719C>T , CM000663.2:g.156138719C>T GRCh38
NC_000001.10:g.156108510C>T , CM000663.1:g.156108510C>T GRCh37
NC_000001.9:g.154375134C>T NCBI36
NG_008692.2:g.61147C>T , LRG_254:g.61147C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1372C>T ENSP00000426535.3:p.Arg458Cys
ENST00000682650.1:c.1840C>T ENSP00000506904.1:p.Arg614Cys
ENST00000683032.1:c.1930C>T ENSP00000506771.1:p.Arg644Cys
ENST00000683773.1:n.163+112C>T
ENST00000684195.1:c.*1022C>T ENSP00000508220.1:n.*1022C>T
ENST00000361308.9:c.1930C>T ENSP00000355292.6:p.Arg644Cys
ENST00000368300.9:c.1930C>T MANE Select ENSP00000357283.4:p.Arg644Cys
ENST00000674518.1:c.*1280C>T ENSP00000502261.1:n.*1280C>T
ENST00000674600.1:c.*1729C>T ENSP00000501666.1:n.*1729C>T
ENST00000675455.1:c.*1730C>T ENSP00000501795.1:n.*1730C>T
ENST00000675667.1:c.1930C>T ENSP00000501803.1:p.Arg644Cys
ENST00000675874.1:c.*1401C>T ENSP00000501851.1:n.*1401C>T
ENST00000675881.1:c.*941C>T ENSP00000501670.1:n.*941C>T
ENST00000675939.1:c.1930C>T ENSP00000502256.1:p.Arg644Cys
ENST00000675989.1:n.3533C>T
ENST00000676208.1:c.*1033C>T ENSP00000502468.1:n.*1033C>T
ENST00000676385.2:c.1840C>T ENSP00000502091.1:p.Arg614Cys
ENST00000676434.1:c.*1685C>T ENSP00000501648.1:n.*1685C>T
ENST00000347559.6:c.1840C>T ENSP00000292304.3:p.Arg614Cys
ENST00000368299.7:c.1818+112C>T ENSP00000357282.3:n.1818+112C>T
ENST00000368300.8:c.1930C>T ENSP00000357283.4:p.Arg644Cys
ENST00000448611.6:c.1594C>T ENSP00000395597.2:p.Arg532Cys
ENST00000473598.6:c.1633C>T ENSP00000421821.1:p.Arg545Cys
ENST00000496738.5:n.2143C>T
ENST00000506981.1:n.514C>T
ENST00000508500.1:c.718C>T ENSP00000424977.1:p.Arg240Cys
NM_001257374.2:c.1594C>T NP_001244303.1:p.Arg532Cys
NM_001282626.1:c.1818+112C>T NP_001269555.1:n.1818+112C>T
NM_170707.3:c.1930C>T NP_733821.1:p.Arg644Cys
NM_170708.3:c.1840C>T NP_733822.1:p.Arg614Cys
XM_011509533.1:c.1594C>T XP_011507835.1:p.Arg532Cys
XM_011509534.1:c.1306C>T XP_011507836.1:p.Arg436Cys
XR_921781.1:n.2219C>T
XM_011509534.2:c.1306C>T XP_011507836.1:p.Arg436Cys
XR_921781.2:n.2217C>T
NM_170707.4:c.1930C>T MANE Select NP_733821.1:p.Arg644Cys
NM_001257374.3:c.1594C>T NP_001244303.1:p.Arg532Cys
NM_001282626.2:c.1818+112C>T NP_001269555.1:n.1818+112C>T
NM_170708.4:c.1840C>T NP_733822.1:p.Arg614Cys