Canonical Allele Identifier: CA349402282
Community Standard Title: NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178528755G>A , CM000664.2:g.178528755G>A GRCh38
NC_000002.11:g.179393482G>A , CM000664.1:g.179393482G>A GRCh37
NC_000002.10:g.179101728G>A NCBI36
NG_011618.3:g.307048C>T , LRG_391:g.307048C>T
NG_051363.1:g.10929G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106996C>T (TTN) MANE Select NP_001254479.2:p.Gln35666Ter
ENST00000589042.5:c.106996C>T (TTN) MANE Select ENSP00000467141.1:p.Gln35666Ter
NM_001256850.1:c.102073C>T (TTN) NP_001243779.1:p.Gln34025Ter
NM_003319.4:c.79801C>T (TTN) NP_003310.4:p.Gln26601Ter
NM_133378.4:c.99292C>T (TTN) NP_596869.4:p.Gln33098Ter
NM_133432.3:c.80176C>T (TTN) NP_597676.3:p.Gln26726Ter
NM_133437.4:c.80377C>T (TTN) NP_597681.4:p.Gln26793Ter
NR_038271.1:n.446+5119G>A (TTN-AS1)
NR_038272.1:n.219+5119G>A (TTN-AS1)
ENST00000342175.10:c.80377C>T (TTN) ENSP00000340554.6:p.Gln26793Ter
ENST00000342175.11:c.80377C>T (TTN) ENSP00000340554.6:p.Gln26793Ter
ENST00000342992.10:c.99292C>T (TTN) ENSP00000343764.6:p.Gln33098Ter
ENST00000342992.11:c.99292C>T (TTN) ENSP00000343764.6:p.Gln33098Ter
ENST00000359218.10:c.80176C>T (TTN) ENSP00000352154.5:p.Gln26726Ter
ENST00000359218.9:c.80176C>T (TTN) ENSP00000352154.5:p.Gln26726Ter
ENST00000460472.6:c.79801C>T (TTN) ENSP00000434586.1:p.Gln26601Ter
ENST00000591111.5:c.102073C>T (TTN) ENSP00000465570.1:p.Gln34025Ter
ENST00000615779.4:c.102073C>T (TTN) ENSP00000483597.1:p.Gln34025Ter
XM_011511729.1:c.106093C>T (TTN) XP_011510031.1:p.Gln35365Ter
XM_011511730.1:c.79987C>T (TTN) XP_011510032.1:p.Gln26663Ter
XM_011511731.1:c.79846C>T (TTN) XP_011510033.1:p.Gln26616Ter
XM_017004819.1:c.105889C>T (TTN) XP_016860308.1:p.Gln35297Ter
XM_017004820.1:c.101287C>T (TTN) XP_016860309.1:p.Gln33763Ter
XM_017004821.1:c.101284C>T (TTN) XP_016860310.1:p.Gln33762Ter
XM_017004822.1:c.98326C>T (TTN) XP_016860311.1:p.Gln32776Ter
XM_017004823.1:c.79942C>T (TTN) XP_016860312.1:p.Gln26648Ter
XM_024453094.1:c.101437C>T (TTN) XP_024308862.1:p.Gln33813Ter
XM_024453095.1:c.101434C>T (TTN) XP_024308863.1:p.Gln33812Ter
XM_024453096.1:c.100867C>T (TTN) XP_024308864.1:p.Gln33623Ter
XM_024453097.1:c.98209C>T (TTN) XP_024308865.1:p.Gln32737Ter
XM_024453098.1:c.98128C>T (TTN) XP_024308866.1:p.Gln32710Ter
XM_024453099.1:c.79891C>T (TTN) XP_024308867.1:p.Gln26631Ter
XM_024453100.1:c.69745C>T (TTN) XP_024308868.1:p.Gln23249Ter