Canonical Allele Identifier: CA342823242
Community Standard Title: NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137165G>A , CM000663.2:g.156137165G>A GRCh38
NC_000001.10:g.156106956G>A , CM000663.1:g.156106956G>A GRCh37
NC_000001.9:g.154373580G>A NCBI36
NG_008692.2:g.59593G>A , LRG_254:g.59593G>A

Transcript Alleles

HGVS Amino-acid Change
NM_170707.4:c.1541G>A MANE Select NP_733821.1:p.Trp514Ter
ENST00000368300.9:c.1541G>A MANE Select ENSP00000357283.4:p.Trp514Ter
NM_005572.4:c.1541G>A MANE Plus Clinical NP_005563.1:p.Trp514Ter
ENST00000677389.1:c.1541G>A MANE Plus Clinical ENSP00000503633.1:p.Trp514Ter
NM_001257374.2:c.1205G>A NP_001244303.1:p.Trp402Ter
NM_001257374.3:c.1205G>A NP_001244303.1:p.Trp402Ter
NM_001282624.1:c.1298G>A NP_001269553.1:p.Trp433Ter
NM_001282624.2:c.1298G>A NP_001269553.1:p.Trp433Ter
NM_001282625.1:c.1541G>A NP_001269554.1:p.Trp514Ter
NM_001282625.2:c.1541G>A NP_001269554.1:p.Trp514Ter
NM_001282626.1:c.1541G>A NP_001269555.1:p.Trp514Ter
NM_001282626.2:c.1541G>A NP_001269555.1:p.Trp514Ter
NM_005572.3:c.1541G>A , LRG_254t1:c.1541G>A NP_005563.1:p.Trp514Ter
NM_170707.3:c.1541G>A NP_733821.1:p.Trp514Ter
NM_170708.3:c.1541G>A NP_733822.1:p.Trp514Ter
NM_170708.4:c.1541G>A NP_733822.1:p.Trp514Ter
ENST00000347559.6:c.1541G>A ENSP00000292304.3:p.Trp514Ter
ENST00000361308.8:c.1312-26G>A ENSP00000355292.5:n.1312-26G>A
ENST00000361308.9:c.1541G>A ENSP00000355292.6:p.Trp514Ter
ENST00000368297.5:c.1298G>A ENSP00000357280.1:p.Trp433Ter
ENST00000368298.2:n.1373G>A
ENST00000368299.7:c.1541G>A ENSP00000357282.3:p.Trp514Ter
ENST00000368300.8:c.1541G>A ENSP00000357283.4:p.Trp514Ter
ENST00000368301.6:c.1541G>A ENSP00000357284.2:p.Trp514Ter
ENST00000448611.6:c.1205G>A ENSP00000395597.2:p.Trp402Ter
ENST00000459904.1:n.789G>A
ENST00000459904.2:n.789G>A
ENST00000473598.6:c.1244G>A ENSP00000421821.1:p.Trp415Ter
ENST00000496738.5:n.1010G>A
ENST00000496738.6:n.2000G>A
ENST00000498722.2:n.773G>A
ENST00000498722.3:n.773G>A
ENST00000504687.7:c.983G>A ENSP00000426535.3:p.Trp328Ter
ENST00000508500.1:c.419G>A ENSP00000424977.1:p.Trp140Ter
ENST00000674518.1:c.*891G>A ENSP00000502261.1:n.*891G>A
ENST00000674600.1:c.*1340G>A ENSP00000501666.1:n.*1340G>A
ENST00000674720.1:c.*103G>A ENSP00000502798.1:n.*103G>A
ENST00000675431.1:n.1234G>A
ENST00000675455.1:c.*1341G>A ENSP00000501795.1:n.*1341G>A
ENST00000675667.1:c.1541G>A ENSP00000501803.1:p.Trp514Ter
ENST00000675874.1:c.*1012G>A ENSP00000501851.1:n.*1012G>A
ENST00000675881.1:c.*552G>A ENSP00000501670.1:n.*552G>A
ENST00000675939.1:c.1541G>A ENSP00000502256.1:p.Trp514Ter
ENST00000675989.1:n.2400G>A
ENST00000676208.1:c.*644G>A ENSP00000502468.1:n.*644G>A
ENST00000676283.1:n.1916G>A
ENST00000676385.2:c.1541G>A ENSP00000502091.1:p.Trp514Ter
ENST00000676434.1:c.*552G>A ENSP00000501648.1:n.*552G>A
ENST00000682650.1:c.1541G>A ENSP00000506904.1:p.Trp514Ter
ENST00000683032.1:c.1541G>A ENSP00000506771.1:p.Trp514Ter
ENST00000684195.1:c.1541G>A ENSP00000508220.1:p.Trp514Ter
XM_011509533.1:c.1205G>A XP_011507835.1:p.Trp402Ter
XM_011509534.1:c.917G>A XP_011507836.1:p.Trp306Ter
XM_011509534.2:c.917G>A XP_011507836.1:p.Trp306Ter
XR_921781.1:n.1830G>A
XR_921781.2:n.1828G>A