Canonical Allele Identifier: CA342820772
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136218C>A , CM000663.2:g.156136218C>A GRCh38
NC_000001.10:g.156106009C>A , CM000663.1:g.156106009C>A GRCh37
NC_000001.9:g.154372633C>A NCBI36
NG_008692.2:g.58646C>A , LRG_254:g.58646C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.604C>A ENSP00000426535.3:p.Arg202Ser
ENST00000498722.3:n.394C>A
ENST00000682650.1:c.1162C>A ENSP00000506904.1:p.Arg388Ser
ENST00000683032.1:c.1162C>A ENSP00000506771.1:p.Arg388Ser
ENST00000684195.1:c.1162C>A ENSP00000508220.1:p.Arg388Ser
ENST00000361308.9:c.1162C>A ENSP00000355292.6:p.Arg388Ser
ENST00000368300.9:c.1162C>A MANE Select ENSP00000357283.4:p.Arg388Ser
ENST00000496738.6:n.1537C>A
ENST00000674518.1:c.*512C>A ENSP00000502261.1:n.*512C>A
ENST00000674600.1:c.*961C>A ENSP00000501666.1:n.*961C>A
ENST00000674720.1:c.1162C>A ENSP00000502798.1:p.Arg388Ser
ENST00000675431.1:n.855C>A
ENST00000675455.1:c.*962C>A ENSP00000501795.1:n.*962C>A
ENST00000675667.1:c.1162C>A ENSP00000501803.1:p.Arg388Ser
ENST00000675874.1:c.*633C>A ENSP00000501851.1:n.*633C>A
ENST00000675881.1:c.*173C>A ENSP00000501670.1:n.*173C>A
ENST00000675939.1:c.1162C>A ENSP00000502256.1:p.Arg388Ser
ENST00000675989.1:n.1537C>A
ENST00000676208.1:c.*265C>A ENSP00000502468.1:n.*265C>A
ENST00000676283.1:n.1537C>A
ENST00000676385.2:c.1162C>A ENSP00000502091.1:p.Arg388Ser
ENST00000676434.1:c.*173C>A ENSP00000501648.1:n.*173C>A
ENST00000677389.1:c.1162C>A MANE Plus Clinical ENSP00000503633.1:p.Arg388Ser
ENST00000347559.6:c.1162C>A ENSP00000292304.3:p.Arg388Ser
ENST00000361308.8:c.1162C>A ENSP00000355292.5:p.Arg388Ser
ENST00000368297.5:c.919C>A ENSP00000357280.1:p.Arg307Ser
ENST00000368298.2:n.426C>A
ENST00000368299.7:c.1162C>A ENSP00000357282.3:p.Arg388Ser
ENST00000368300.8:c.1162C>A ENSP00000357283.4:p.Arg388Ser
ENST00000368301.6:c.1162C>A ENSP00000357284.2:p.Arg388Ser
ENST00000448611.6:c.826C>A ENSP00000395597.2:p.Arg276Ser
ENST00000473598.6:c.865C>A ENSP00000421821.1:p.Arg289Ser
ENST00000496738.5:n.547C>A
ENST00000498722.2:n.394C>A
ENST00000508500.1:c.40C>A ENSP00000424977.1:p.Arg14Ser
NM_001257374.2:c.826C>A NP_001244303.1:p.Arg276Ser
NM_001282624.1:c.919C>A NP_001269553.1:p.Arg307Ser
NM_001282625.1:c.1162C>A NP_001269554.1:p.Arg388Ser
NM_001282626.1:c.1162C>A NP_001269555.1:p.Arg388Ser
NM_005572.3:c.1162C>A , LRG_254t1:c.1162C>A NP_005563.1:p.Arg388Ser
NM_170707.3:c.1162C>A NP_733821.1:p.Arg388Ser
NM_170708.3:c.1162C>A NP_733822.1:p.Arg388Ser
XM_011509533.1:c.826C>A XP_011507835.1:p.Arg276Ser
XM_011509534.1:c.538C>A XP_011507836.1:p.Arg180Ser
XR_921781.1:n.1451C>A
XM_011509534.2:c.538C>A XP_011507836.1:p.Arg180Ser
XR_921781.2:n.1449C>A
NM_170707.4:c.1162C>A MANE Select NP_733821.1:p.Arg388Ser
NM_001257374.3:c.826C>A NP_001244303.1:p.Arg276Ser
NM_001282626.2:c.1162C>A NP_001269555.1:p.Arg388Ser
NM_001282624.2:c.919C>A NP_001269553.1:p.Arg307Ser
NM_001282625.2:c.1162C>A NP_001269554.1:p.Arg388Ser
NM_005572.4:c.1162C>A MANE Plus Clinical NP_005563.1:p.Arg388Ser
NM_170708.4:c.1162C>A NP_733822.1:p.Arg388Ser