Canonical Allele Identifier: CA342826215
Gene: LMNA HGNC NCBI

Linked Data

COSMIC: COSM897121

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138488G>T , CM000663.2:g.156138488G>T GRCh38
NC_000001.10:g.156108279G>T , CM000663.1:g.156108279G>T GRCh37
NC_000001.9:g.154374903G>T NCBI36
NG_008692.2:g.60916G>T , LRG_254:g.60916G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1141G>T ENSP00000426535.3:p.Gly381Cys
ENST00000682650.1:c.1609G>T ENSP00000506904.1:p.Gly537Cys
ENST00000683032.1:c.1699G>T ENSP00000506771.1:p.Gly567Cys
ENST00000683773.1:n.44G>T
ENST00000684195.1:c.*791G>T ENSP00000508220.1:n.*791G>T
ENST00000361308.9:c.1699G>T ENSP00000355292.6:p.Gly567Cys
ENST00000368300.9:c.1699G>T MANE Select ENSP00000357283.4:p.Gly567Cys
ENST00000496738.6:n.2902G>T
ENST00000674518.1:c.*1049G>T ENSP00000502261.1:n.*1049G>T
ENST00000674600.1:c.*1498G>T ENSP00000501666.1:n.*1498G>T
ENST00000674720.1:c.*1005G>T ENSP00000502798.1:n.*1005G>T
ENST00000675455.1:c.*1499G>T ENSP00000501795.1:n.*1499G>T
ENST00000675667.1:c.1699G>T ENSP00000501803.1:p.Gly567Cys
ENST00000675874.1:c.*1170G>T ENSP00000501851.1:n.*1170G>T
ENST00000675881.1:c.*710G>T ENSP00000501670.1:n.*710G>T
ENST00000675939.1:c.1699G>T ENSP00000502256.1:p.Gly567Cys
ENST00000675989.1:n.3302G>T
ENST00000676208.1:c.*802G>T ENSP00000502468.1:n.*802G>T
ENST00000676283.1:n.3239G>T
ENST00000676385.2:c.1609G>T ENSP00000502091.1:p.Gly537Cys
ENST00000676434.1:c.*1454G>T ENSP00000501648.1:n.*1454G>T
ENST00000347559.6:c.1609G>T ENSP00000292304.3:p.Gly537Cys
ENST00000368299.7:c.1699G>T ENSP00000357282.3:p.Gly567Cys
ENST00000368300.8:c.1699G>T ENSP00000357283.4:p.Gly567Cys
ENST00000448611.6:c.1363G>T ENSP00000395597.2:p.Gly455Cys
ENST00000473598.6:c.1402G>T ENSP00000421821.1:p.Gly468Cys
ENST00000496738.5:n.1912G>T
ENST00000506981.1:n.283G>T
ENST00000508500.1:c.487G>T ENSP00000424977.1:p.Gly163Cys
NM_001257374.2:c.1363G>T NP_001244303.1:p.Gly455Cys
NM_001282626.1:c.1699G>T NP_001269555.1:p.Gly567Cys
NM_170707.3:c.1699G>T NP_733821.1:p.Gly567Cys
NM_170708.3:c.1609G>T NP_733822.1:p.Gly537Cys
XM_011509533.1:c.1363G>T XP_011507835.1:p.Gly455Cys
XM_011509534.1:c.1075G>T XP_011507836.1:p.Gly359Cys
XR_921781.1:n.1988G>T
XM_011509534.2:c.1075G>T XP_011507836.1:p.Gly359Cys
XR_921781.2:n.1986G>T
NM_170707.4:c.1699G>T MANE Select NP_733821.1:p.Gly567Cys
NM_001257374.3:c.1363G>T NP_001244303.1:p.Gly455Cys
NM_001282626.2:c.1699G>T NP_001269555.1:p.Gly567Cys
NM_170708.4:c.1609G>T NP_733822.1:p.Gly537Cys