Canonical Allele Identifier: CA342816890
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134457C>G , CM000663.2:g.156134457C>G GRCh38
NC_000001.10:g.156104248C>G , CM000663.1:g.156104248C>G GRCh37
NC_000001.9:g.154370872C>G NCBI36
NG_008692.2:g.56885C>G , LRG_254:g.56885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.10C>G ENSP00000426535.3:p.Arg4Gly
ENST00000682650.1:c.568C>G ENSP00000506904.1:p.Arg190Gly
ENST00000683032.1:c.568C>G ENSP00000506771.1:p.Arg190Gly
ENST00000684195.1:c.568C>G ENSP00000508220.1:p.Arg190Gly
ENST00000361308.9:c.568C>G ENSP00000355292.6:p.Arg190Gly
ENST00000368300.9:c.568C>G MANE Select ENSP00000357283.4:p.Arg190Gly
ENST00000496738.6:n.943C>G
ENST00000504687.6:c.-97C>G ENSP00000426535.2:n.-97C>G
ENST00000674518.1:c.568C>G ENSP00000502261.1:p.Arg190Gly
ENST00000674600.1:c.*367C>G ENSP00000501666.1:n.*367C>G
ENST00000674720.1:c.568C>G ENSP00000502798.1:p.Arg190Gly
ENST00000675431.1:n.261C>G
ENST00000675455.1:c.*368C>G ENSP00000501795.1:n.*368C>G
ENST00000675667.1:c.568C>G ENSP00000501803.1:p.Arg190Gly
ENST00000675874.1:c.*39C>G ENSP00000501851.1:n.*39C>G
ENST00000675881.1:c.568C>G ENSP00000501670.1:p.Arg190Gly
ENST00000675939.1:c.568C>G ENSP00000502256.1:p.Arg190Gly
ENST00000675989.1:n.943C>G
ENST00000676208.1:c.568C>G ENSP00000502468.1:p.Arg190Gly
ENST00000676283.1:n.943C>G
ENST00000676385.2:c.568C>G ENSP00000502091.1:p.Arg190Gly
ENST00000676434.1:c.568C>G ENSP00000501648.1:p.Arg190Gly
ENST00000677389.1:c.568C>G MANE Plus Clinical ENSP00000503633.1:p.Arg190Gly
ENST00000347559.6:c.568C>G ENSP00000292304.3:p.Arg190Gly
ENST00000361308.8:c.568C>G ENSP00000355292.5:p.Arg190Gly
ENST00000368297.5:c.325C>G ENSP00000357280.1:p.Arg109Gly
ENST00000368299.7:c.568C>G ENSP00000357282.3:p.Arg190Gly
ENST00000368300.8:c.568C>G ENSP00000357283.4:p.Arg190Gly
ENST00000368301.6:c.568C>G ENSP00000357284.2:p.Arg190Gly
ENST00000448611.6:c.232C>G ENSP00000395597.2:p.Arg78Gly
ENST00000470199.2:n.510C>G
ENST00000473598.6:c.271C>G ENSP00000421821.1:p.Arg91Gly
ENST00000502357.5:n.466C>G
ENST00000502751.5:n.540C>G
ENST00000504687.5:c.319C>G ENSP00000426535.1:p.Arg107Gly
ENST00000515459.5:c.*242C>G ENSP00000424518.1:n.*242C>G
NM_001257374.2:c.232C>G NP_001244303.1:p.Arg78Gly
NM_001282624.1:c.325C>G NP_001269553.1:p.Arg109Gly
NM_001282625.1:c.568C>G NP_001269554.1:p.Arg190Gly
NM_001282626.1:c.568C>G NP_001269555.1:p.Arg190Gly
NM_005572.3:c.568C>G , LRG_254t1:c.568C>G NP_005563.1:p.Arg190Gly
NM_170707.3:c.568C>G NP_733821.1:p.Arg190Gly
NM_170708.3:c.568C>G NP_733822.1:p.Arg190Gly
XM_011509533.1:c.232C>G XP_011507835.1:p.Arg78Gly
XM_011509534.1:c.-97C>G XP_011507836.1:n.-97C>G
XR_921781.1:n.817C>G
XM_011509534.2:c.-97C>G XP_011507836.1:n.-97C>G
XR_921781.2:n.815C>G
NM_170707.4:c.568C>G MANE Select NP_733821.1:p.Arg190Gly
NM_001257374.3:c.232C>G NP_001244303.1:p.Arg78Gly
NM_001282626.2:c.568C>G NP_001269555.1:p.Arg190Gly
NM_001282624.2:c.325C>G NP_001269553.1:p.Arg109Gly
NM_001282625.2:c.568C>G NP_001269554.1:p.Arg190Gly
NM_005572.4:c.568C>G MANE Plus Clinical NP_005563.1:p.Arg190Gly
NM_170708.4:c.568C>G NP_733822.1:p.Arg190Gly