Canonical Allele Identifier: CA342820917
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136237C>G , CM000663.2:g.156136237C>G GRCh38
NC_000001.10:g.156106028C>G , CM000663.1:g.156106028C>G GRCh37
NC_000001.9:g.154372652C>G NCBI36
NG_008692.2:g.58665C>G , LRG_254:g.58665C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.623C>G ENSP00000426535.3:p.Thr208Ser
ENST00000498722.3:n.413C>G
ENST00000682650.1:c.1181C>G ENSP00000506904.1:p.Thr394Ser
ENST00000683032.1:c.1181C>G ENSP00000506771.1:p.Thr394Ser
ENST00000684195.1:c.1181C>G ENSP00000508220.1:p.Thr394Ser
ENST00000361308.9:c.1181C>G ENSP00000355292.6:p.Thr394Ser
ENST00000368300.9:c.1181C>G MANE Select ENSP00000357283.4:p.Thr394Ser
ENST00000496738.6:n.1556C>G
ENST00000674518.1:c.*531C>G ENSP00000502261.1:n.*531C>G
ENST00000674600.1:c.*980C>G ENSP00000501666.1:n.*980C>G
ENST00000674720.1:c.1181C>G ENSP00000502798.1:p.Thr394Ser
ENST00000675431.1:n.874C>G
ENST00000675455.1:c.*981C>G ENSP00000501795.1:n.*981C>G
ENST00000675667.1:c.1181C>G ENSP00000501803.1:p.Thr394Ser
ENST00000675874.1:c.*652C>G ENSP00000501851.1:n.*652C>G
ENST00000675881.1:c.*192C>G ENSP00000501670.1:n.*192C>G
ENST00000675939.1:c.1181C>G ENSP00000502256.1:p.Thr394Ser
ENST00000675989.1:n.1556C>G
ENST00000676208.1:c.*284C>G ENSP00000502468.1:n.*284C>G
ENST00000676283.1:n.1556C>G
ENST00000676385.2:c.1181C>G ENSP00000502091.1:p.Thr394Ser
ENST00000676434.1:c.*192C>G ENSP00000501648.1:n.*192C>G
ENST00000677389.1:c.1181C>G MANE Plus Clinical ENSP00000503633.1:p.Thr394Ser
ENST00000347559.6:c.1181C>G ENSP00000292304.3:p.Thr394Ser
ENST00000361308.8:c.1181C>G ENSP00000355292.5:p.Thr394Ser
ENST00000368297.5:c.938C>G ENSP00000357280.1:p.Thr313Ser
ENST00000368298.2:n.445C>G
ENST00000368299.7:c.1181C>G ENSP00000357282.3:p.Thr394Ser
ENST00000368300.8:c.1181C>G ENSP00000357283.4:p.Thr394Ser
ENST00000368301.6:c.1181C>G ENSP00000357284.2:p.Thr394Ser
ENST00000448611.6:c.845C>G ENSP00000395597.2:p.Thr282Ser
ENST00000473598.6:c.884C>G ENSP00000421821.1:p.Thr295Ser
ENST00000496738.5:n.566C>G
ENST00000498722.2:n.413C>G
ENST00000508500.1:c.59C>G ENSP00000424977.1:p.Thr20Ser
NM_001257374.2:c.845C>G NP_001244303.1:p.Thr282Ser
NM_001282624.1:c.938C>G NP_001269553.1:p.Thr313Ser
NM_001282625.1:c.1181C>G NP_001269554.1:p.Thr394Ser
NM_001282626.1:c.1181C>G NP_001269555.1:p.Thr394Ser
NM_005572.3:c.1181C>G , LRG_254t1:c.1181C>G NP_005563.1:p.Thr394Ser
NM_170707.3:c.1181C>G NP_733821.1:p.Thr394Ser
NM_170708.3:c.1181C>G NP_733822.1:p.Thr394Ser
XM_011509533.1:c.845C>G XP_011507835.1:p.Thr282Ser
XM_011509534.1:c.557C>G XP_011507836.1:p.Thr186Ser
XR_921781.1:n.1470C>G
XM_011509534.2:c.557C>G XP_011507836.1:p.Thr186Ser
XR_921781.2:n.1468C>G
NM_170707.4:c.1181C>G MANE Select NP_733821.1:p.Thr394Ser
NM_001257374.3:c.845C>G NP_001244303.1:p.Thr282Ser
NM_001282626.2:c.1181C>G NP_001269555.1:p.Thr394Ser
NM_001282624.2:c.938C>G NP_001269553.1:p.Thr313Ser
NM_001282625.2:c.1181C>G NP_001269554.1:p.Thr394Ser
NM_005572.4:c.1181C>G MANE Plus Clinical NP_005563.1:p.Thr394Ser
NM_170708.4:c.1181C>G NP_733822.1:p.Thr394Ser