Canonical Allele Identifier: CA342826278
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138497T>G , CM000663.2:g.156138497T>G GRCh38
NC_000001.10:g.156108288T>G , CM000663.1:g.156108288T>G GRCh37
NC_000001.9:g.154374912T>G NCBI36
NG_008692.2:g.60925T>G , LRG_254:g.60925T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1150T>G ENSP00000426535.3:p.Cys384Gly
ENST00000682650.1:c.1618T>G ENSP00000506904.1:p.Cys540Gly
ENST00000683032.1:c.1708T>G ENSP00000506771.1:p.Cys570Gly
ENST00000683773.1:n.53T>G
ENST00000684195.1:c.*800T>G ENSP00000508220.1:n.*800T>G
ENST00000361308.9:c.1708T>G ENSP00000355292.6:p.Cys570Gly
ENST00000368300.9:c.1708T>G MANE Select ENSP00000357283.4:p.Cys570Gly
ENST00000496738.6:n.2911T>G
ENST00000674518.1:c.*1058T>G ENSP00000502261.1:n.*1058T>G
ENST00000674600.1:c.*1507T>G ENSP00000501666.1:n.*1507T>G
ENST00000674720.1:c.*1014T>G ENSP00000502798.1:n.*1014T>G
ENST00000675455.1:c.*1508T>G ENSP00000501795.1:n.*1508T>G
ENST00000675667.1:c.1708T>G ENSP00000501803.1:p.Cys570Gly
ENST00000675874.1:c.*1179T>G ENSP00000501851.1:n.*1179T>G
ENST00000675881.1:c.*719T>G ENSP00000501670.1:n.*719T>G
ENST00000675939.1:c.1708T>G ENSP00000502256.1:p.Cys570Gly
ENST00000675989.1:n.3311T>G
ENST00000676208.1:c.*811T>G ENSP00000502468.1:n.*811T>G
ENST00000676283.1:n.3248T>G
ENST00000676385.2:c.1618T>G ENSP00000502091.1:p.Cys540Gly
ENST00000676434.1:c.*1463T>G ENSP00000501648.1:n.*1463T>G
ENST00000347559.6:c.1618T>G ENSP00000292304.3:p.Cys540Gly
ENST00000368299.7:c.1708T>G ENSP00000357282.3:p.Cys570Gly
ENST00000368300.8:c.1708T>G ENSP00000357283.4:p.Cys570Gly
ENST00000448611.6:c.1372T>G ENSP00000395597.2:p.Cys458Gly
ENST00000473598.6:c.1411T>G ENSP00000421821.1:p.Cys471Gly
ENST00000496738.5:n.1921T>G
ENST00000506981.1:n.292T>G
ENST00000508500.1:c.496T>G ENSP00000424977.1:p.Cys166Gly
NM_001257374.2:c.1372T>G NP_001244303.1:p.Cys458Gly
NM_001282626.1:c.1708T>G NP_001269555.1:p.Cys570Gly
NM_170707.3:c.1708T>G NP_733821.1:p.Cys570Gly
NM_170708.3:c.1618T>G NP_733822.1:p.Cys540Gly
XM_011509533.1:c.1372T>G XP_011507835.1:p.Cys458Gly
XM_011509534.1:c.1084T>G XP_011507836.1:p.Cys362Gly
XR_921781.1:n.1997T>G
XM_011509534.2:c.1084T>G XP_011507836.1:p.Cys362Gly
XR_921781.2:n.1995T>G
NM_170707.4:c.1708T>G MANE Select NP_733821.1:p.Cys570Gly
NM_001257374.3:c.1372T>G NP_001244303.1:p.Cys458Gly
NM_001282626.2:c.1708T>G NP_001269555.1:p.Cys570Gly
NM_170708.4:c.1618T>G NP_733822.1:p.Cys540Gly