Canonical Allele Identifier: CA342826352
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138507C>G , CM000663.2:g.156138507C>G GRCh38
NC_000001.10:g.156108298C>G , CM000663.1:g.156108298C>G GRCh37
NC_000001.9:g.154374922C>G NCBI36
NG_008692.2:g.60935C>G , LRG_254:g.60935C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1160C>G ENSP00000426535.3:p.Ser387Trp
ENST00000682650.1:c.1628C>G ENSP00000506904.1:p.Ser543Trp
ENST00000683032.1:c.1718C>G ENSP00000506771.1:p.Ser573Trp
ENST00000683773.1:n.63C>G
ENST00000684195.1:c.*810C>G ENSP00000508220.1:n.*810C>G
ENST00000361308.9:c.1718C>G ENSP00000355292.6:p.Ser573Trp
ENST00000368300.9:c.1718C>G MANE Select ENSP00000357283.4:p.Ser573Trp
ENST00000496738.6:n.2921C>G
ENST00000674518.1:c.*1068C>G ENSP00000502261.1:n.*1068C>G
ENST00000674600.1:c.*1517C>G ENSP00000501666.1:n.*1517C>G
ENST00000674720.1:c.*1024C>G ENSP00000502798.1:n.*1024C>G
ENST00000675455.1:c.*1518C>G ENSP00000501795.1:n.*1518C>G
ENST00000675667.1:c.1718C>G ENSP00000501803.1:p.Ser573Trp
ENST00000675874.1:c.*1189C>G ENSP00000501851.1:n.*1189C>G
ENST00000675881.1:c.*729C>G ENSP00000501670.1:n.*729C>G
ENST00000675939.1:c.1718C>G ENSP00000502256.1:p.Ser573Trp
ENST00000675989.1:n.3321C>G
ENST00000676208.1:c.*821C>G ENSP00000502468.1:n.*821C>G
ENST00000676283.1:n.3258C>G
ENST00000676385.2:c.1628C>G ENSP00000502091.1:p.Ser543Trp
ENST00000676434.1:c.*1473C>G ENSP00000501648.1:n.*1473C>G
ENST00000347559.6:c.1628C>G ENSP00000292304.3:p.Ser543Trp
ENST00000368299.7:c.1718C>G ENSP00000357282.3:p.Ser573Trp
ENST00000368300.8:c.1718C>G ENSP00000357283.4:p.Ser573Trp
ENST00000448611.6:c.1382C>G ENSP00000395597.2:p.Ser461Trp
ENST00000473598.6:c.1421C>G ENSP00000421821.1:p.Ser474Trp
ENST00000496738.5:n.1931C>G
ENST00000506981.1:n.302C>G
ENST00000508500.1:c.506C>G ENSP00000424977.1:p.Ser169Trp
NM_001257374.2:c.1382C>G NP_001244303.1:p.Ser461Trp
NM_001282626.1:c.1718C>G NP_001269555.1:p.Ser573Trp
NM_170707.3:c.1718C>G NP_733821.1:p.Ser573Trp
NM_170708.3:c.1628C>G NP_733822.1:p.Ser543Trp
XM_011509533.1:c.1382C>G XP_011507835.1:p.Ser461Trp
XM_011509534.1:c.1094C>G XP_011507836.1:p.Ser365Trp
XR_921781.1:n.2007C>G
XM_011509534.2:c.1094C>G XP_011507836.1:p.Ser365Trp
XR_921781.2:n.2005C>G
NM_170707.4:c.1718C>G MANE Select NP_733821.1:p.Ser573Trp
NM_001257374.3:c.1382C>G NP_001244303.1:p.Ser461Trp
NM_001282626.2:c.1718C>G NP_001269555.1:p.Ser573Trp
NM_170708.4:c.1628C>G NP_733822.1:p.Ser543Trp