Canonical Allele Identifier: CA342826903
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138585C>T , CM000663.2:g.156138585C>T GRCh38
NC_000001.10:g.156108376C>T , CM000663.1:g.156108376C>T GRCh37
NC_000001.9:g.154375000C>T NCBI36
NG_008692.2:g.61013C>T , LRG_254:g.61013C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1238C>T ENSP00000426535.3:p.Ser413Phe
ENST00000682650.1:c.1706C>T ENSP00000506904.1:p.Ser569Phe
ENST00000683032.1:c.1796C>T ENSP00000506771.1:p.Ser599Phe
ENST00000683773.1:n.141C>T
ENST00000684195.1:c.*888C>T ENSP00000508220.1:n.*888C>T
ENST00000361308.9:c.1796C>T ENSP00000355292.6:p.Ser599Phe
ENST00000368300.9:c.1796C>T MANE Select ENSP00000357283.4:p.Ser599Phe
ENST00000674518.1:c.*1146C>T ENSP00000502261.1:n.*1146C>T
ENST00000674600.1:c.*1595C>T ENSP00000501666.1:n.*1595C>T
ENST00000675455.1:c.*1596C>T ENSP00000501795.1:n.*1596C>T
ENST00000675667.1:c.1796C>T ENSP00000501803.1:p.Ser599Phe
ENST00000675874.1:c.*1267C>T ENSP00000501851.1:n.*1267C>T
ENST00000675881.1:c.*807C>T ENSP00000501670.1:n.*807C>T
ENST00000675939.1:c.1796C>T ENSP00000502256.1:p.Ser599Phe
ENST00000675989.1:n.3399C>T
ENST00000676208.1:c.*899C>T ENSP00000502468.1:n.*899C>T
ENST00000676283.1:n.3336C>T
ENST00000676385.2:c.1706C>T ENSP00000502091.1:p.Ser569Phe
ENST00000676434.1:c.*1551C>T ENSP00000501648.1:n.*1551C>T
ENST00000347559.6:c.1706C>T ENSP00000292304.3:p.Ser569Phe
ENST00000368299.7:c.1796C>T ENSP00000357282.3:p.Ser599Phe
ENST00000368300.8:c.1796C>T ENSP00000357283.4:p.Ser599Phe
ENST00000448611.6:c.1460C>T ENSP00000395597.2:p.Ser487Phe
ENST00000473598.6:c.1499C>T ENSP00000421821.1:p.Ser500Phe
ENST00000496738.5:n.2009C>T
ENST00000506981.1:n.380C>T
ENST00000508500.1:c.584C>T ENSP00000424977.1:p.Ser195Phe
NM_001257374.2:c.1460C>T NP_001244303.1:p.Ser487Phe
NM_001282626.1:c.1796C>T NP_001269555.1:p.Ser599Phe
NM_170707.3:c.1796C>T NP_733821.1:p.Ser599Phe
NM_170708.3:c.1706C>T NP_733822.1:p.Ser569Phe
XM_011509533.1:c.1460C>T XP_011507835.1:p.Ser487Phe
XM_011509534.1:c.1172C>T XP_011507836.1:p.Ser391Phe
XR_921781.1:n.2085C>T
XM_011509534.2:c.1172C>T XP_011507836.1:p.Ser391Phe
XR_921781.2:n.2083C>T
NM_170707.4:c.1796C>T MANE Select NP_733821.1:p.Ser599Phe
NM_001257374.3:c.1460C>T NP_001244303.1:p.Ser487Phe
NM_001282626.2:c.1796C>T NP_001269555.1:p.Ser599Phe
NM_170708.4:c.1706C>T NP_733822.1:p.Ser569Phe