Canonical Allele Identifier: CA342827215
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138624C>G , CM000663.2:g.156138624C>G GRCh38
NC_000001.10:g.156108415C>G , CM000663.1:g.156108415C>G GRCh37
NC_000001.9:g.154375039C>G NCBI36
NG_008692.2:g.61052C>G , LRG_254:g.61052C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1277C>G ENSP00000426535.3:p.Ser426Cys
ENST00000682650.1:c.1745C>G ENSP00000506904.1:p.Ser582Cys
ENST00000683032.1:c.1835C>G ENSP00000506771.1:p.Ser612Cys
ENST00000683773.1:n.163+17C>G
ENST00000684195.1:c.*927C>G ENSP00000508220.1:n.*927C>G
ENST00000361308.9:c.1835C>G ENSP00000355292.6:p.Ser612Cys
ENST00000368300.9:c.1835C>G MANE Select ENSP00000357283.4:p.Ser612Cys
ENST00000674518.1:c.*1185C>G ENSP00000502261.1:n.*1185C>G
ENST00000674600.1:c.*1634C>G ENSP00000501666.1:n.*1634C>G
ENST00000675455.1:c.*1635C>G ENSP00000501795.1:n.*1635C>G
ENST00000675667.1:c.1835C>G ENSP00000501803.1:p.Ser612Cys
ENST00000675874.1:c.*1306C>G ENSP00000501851.1:n.*1306C>G
ENST00000675881.1:c.*846C>G ENSP00000501670.1:n.*846C>G
ENST00000675939.1:c.1835C>G ENSP00000502256.1:p.Ser612Cys
ENST00000675989.1:n.3438C>G
ENST00000676208.1:c.*938C>G ENSP00000502468.1:n.*938C>G
ENST00000676385.2:c.1745C>G ENSP00000502091.1:p.Ser582Cys
ENST00000676434.1:c.*1590C>G ENSP00000501648.1:n.*1590C>G
ENST00000347559.6:c.1745C>G ENSP00000292304.3:p.Ser582Cys
ENST00000368299.7:c.1818+17C>G ENSP00000357282.3:n.1818+17C>G
ENST00000368300.8:c.1835C>G ENSP00000357283.4:p.Ser612Cys
ENST00000448611.6:c.1499C>G ENSP00000395597.2:p.Ser500Cys
ENST00000473598.6:c.1538C>G ENSP00000421821.1:p.Ser513Cys
ENST00000496738.5:n.2048C>G
ENST00000506981.1:n.419C>G
ENST00000508500.1:c.623C>G ENSP00000424977.1:p.Ser208Cys
NM_001257374.2:c.1499C>G NP_001244303.1:p.Ser500Cys
NM_001282626.1:c.1818+17C>G NP_001269555.1:n.1818+17C>G
NM_170707.3:c.1835C>G NP_733821.1:p.Ser612Cys
NM_170708.3:c.1745C>G NP_733822.1:p.Ser582Cys
XM_011509533.1:c.1499C>G XP_011507835.1:p.Ser500Cys
XM_011509534.1:c.1211C>G XP_011507836.1:p.Ser404Cys
XR_921781.1:n.2124C>G
XM_011509534.2:c.1211C>G XP_011507836.1:p.Ser404Cys
XR_921781.2:n.2122C>G
NM_170707.4:c.1835C>G MANE Select NP_733821.1:p.Ser612Cys
NM_001257374.3:c.1499C>G NP_001244303.1:p.Ser500Cys
NM_001282626.2:c.1818+17C>G NP_001269555.1:n.1818+17C>G
NM_170708.4:c.1745C>G NP_733822.1:p.Ser582Cys