Canonical Allele Identifier: CA342826533
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138531T>C , CM000663.2:g.156138531T>C GRCh38
NC_000001.10:g.156108322T>C , CM000663.1:g.156108322T>C GRCh37
NC_000001.9:g.154374946T>C NCBI36
NG_008692.2:g.60959T>C , LRG_254:g.60959T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1184T>C ENSP00000426535.3:p.Leu395Pro
ENST00000682650.1:c.1652T>C ENSP00000506904.1:p.Leu551Pro
ENST00000683032.1:c.1742T>C ENSP00000506771.1:p.Leu581Pro
ENST00000683773.1:n.87T>C
ENST00000684195.1:c.*834T>C ENSP00000508220.1:n.*834T>C
ENST00000361308.9:c.1742T>C ENSP00000355292.6:p.Leu581Pro
ENST00000368300.9:c.1742T>C MANE Select ENSP00000357283.4:p.Leu581Pro
ENST00000496738.6:n.2945T>C
ENST00000674518.1:c.*1092T>C ENSP00000502261.1:n.*1092T>C
ENST00000674600.1:c.*1541T>C ENSP00000501666.1:n.*1541T>C
ENST00000674720.1:c.*1048T>C ENSP00000502798.1:n.*1048T>C
ENST00000675455.1:c.*1542T>C ENSP00000501795.1:n.*1542T>C
ENST00000675667.1:c.1742T>C ENSP00000501803.1:p.Leu581Pro
ENST00000675874.1:c.*1213T>C ENSP00000501851.1:n.*1213T>C
ENST00000675881.1:c.*753T>C ENSP00000501670.1:n.*753T>C
ENST00000675939.1:c.1742T>C ENSP00000502256.1:p.Leu581Pro
ENST00000675989.1:n.3345T>C
ENST00000676208.1:c.*845T>C ENSP00000502468.1:n.*845T>C
ENST00000676283.1:n.3282T>C
ENST00000676385.2:c.1652T>C ENSP00000502091.1:p.Leu551Pro
ENST00000676434.1:c.*1497T>C ENSP00000501648.1:n.*1497T>C
ENST00000347559.6:c.1652T>C ENSP00000292304.3:p.Leu551Pro
ENST00000368299.7:c.1742T>C ENSP00000357282.3:p.Leu581Pro
ENST00000368300.8:c.1742T>C ENSP00000357283.4:p.Leu581Pro
ENST00000448611.6:c.1406T>C ENSP00000395597.2:p.Leu469Pro
ENST00000473598.6:c.1445T>C ENSP00000421821.1:p.Leu482Pro
ENST00000496738.5:n.1955T>C
ENST00000506981.1:n.326T>C
ENST00000508500.1:c.530T>C ENSP00000424977.1:p.Leu177Pro
NM_001257374.2:c.1406T>C NP_001244303.1:p.Leu469Pro
NM_001282626.1:c.1742T>C NP_001269555.1:p.Leu581Pro
NM_170707.3:c.1742T>C NP_733821.1:p.Leu581Pro
NM_170708.3:c.1652T>C NP_733822.1:p.Leu551Pro
XM_011509533.1:c.1406T>C XP_011507835.1:p.Leu469Pro
XM_011509534.1:c.1118T>C XP_011507836.1:p.Leu373Pro
XR_921781.1:n.2031T>C
XM_011509534.2:c.1118T>C XP_011507836.1:p.Leu373Pro
XR_921781.2:n.2029T>C
NM_170707.4:c.1742T>C MANE Select NP_733821.1:p.Leu581Pro
NM_001257374.3:c.1406T>C NP_001244303.1:p.Leu469Pro
NM_001282626.2:c.1742T>C NP_001269555.1:p.Leu581Pro
NM_170708.4:c.1652T>C NP_733822.1:p.Leu551Pro