Canonical Allele Identifier: CA349564230
Community Standard Title: NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607170C>T , CM000664.2:g.178607170C>T GRCh38
NC_000002.11:g.179471897C>T , CM000664.1:g.179471897C>T GRCh37
NC_000002.10:g.179180142C>T NCBI36
NG_011618.3:g.228633G>A , LRG_391:g.228633G>A
NG_051363.1:g.89344C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53432G>A (TTN) MANE Select NP_001254479.2:p.Trp17811Ter
ENST00000589042.5:c.53432G>A (TTN) MANE Select ENSP00000467141.1:p.Trp17811Ter
NM_001256850.1:c.48509G>A (TTN) NP_001243779.1:p.Trp16170Ter
NM_003319.4:c.26237G>A (TTN) NP_003310.4:p.Trp8746Ter
NM_133378.4:c.45728G>A (TTN) NP_596869.4:p.Trp15243Ter
NM_133432.3:c.26612G>A (TTN) NP_597676.3:p.Trp8871Ter
NM_133437.4:c.26813G>A (TTN) NP_597681.4:p.Trp8938Ter
NR_038271.1:n.683-997C>T (TTN-AS1)
ENST00000342175.10:c.26813G>A (TTN) ENSP00000340554.6:p.Trp8938Ter
ENST00000342175.11:c.26813G>A (TTN) ENSP00000340554.6:p.Trp8938Ter
ENST00000342992.10:c.45728G>A (TTN) ENSP00000343764.6:p.Trp15243Ter
ENST00000342992.11:c.45728G>A (TTN) ENSP00000343764.6:p.Trp15243Ter
ENST00000359218.10:c.26612G>A (TTN) ENSP00000352154.5:p.Trp8871Ter
ENST00000359218.9:c.26612G>A (TTN) ENSP00000352154.5:p.Trp8871Ter
ENST00000460472.6:c.26237G>A (TTN) ENSP00000434586.1:p.Trp8746Ter
ENST00000591111.5:c.48509G>A (TTN) ENSP00000465570.1:p.Trp16170Ter
ENST00000615779.4:c.48509G>A (TTN) ENSP00000483597.1:p.Trp16170Ter
XM_011511729.1:c.52529G>A (TTN) XP_011510031.1:p.Trp17510Ter
XM_011511730.1:c.26423G>A (TTN) XP_011510032.1:p.Trp8808Ter
XM_011511731.1:c.26282G>A (TTN) XP_011510033.1:p.Trp8761Ter
XM_017004819.1:c.52325G>A (TTN) XP_016860308.1:p.Trp17442Ter
XM_017004820.1:c.47723G>A (TTN) XP_016860309.1:p.Trp15908Ter
XM_017004821.1:c.47720G>A (TTN) XP_016860310.1:p.Trp15907Ter
XM_017004822.1:c.44762G>A (TTN) XP_016860311.1:p.Trp14921Ter
XM_017004823.1:c.26378G>A (TTN) XP_016860312.1:p.Trp8793Ter
XM_024453094.1:c.47873G>A (TTN) XP_024308862.1:p.Trp15958Ter
XM_024453095.1:c.47870G>A (TTN) XP_024308863.1:p.Trp15957Ter
XM_024453096.1:c.47303G>A (TTN) XP_024308864.1:p.Trp15768Ter
XM_024453097.1:c.44645G>A (TTN) XP_024308865.1:p.Trp14882Ter
XM_024453098.1:c.44564G>A (TTN) XP_024308866.1:p.Trp14855Ter
XM_024453099.1:c.26327G>A (TTN) XP_024308867.1:p.Trp8776Ter
XM_024453100.1:c.16181G>A (TTN) XP_024308868.1:p.Trp5394Ter