Canonical Allele Identifier: CA349495628

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549783C>A , CM000664.2:g.178549783C>A GRCh38
NC_000002.11:g.179414510C>A , CM000664.1:g.179414510C>A GRCh37
NC_000002.10:g.179122756C>A NCBI36
NG_011618.3:g.286020G>T , LRG_391:g.286020G>T
NG_051363.1:g.31957C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84235G>T (TTN) ENSP00000343764.6:p.Asp28079Tyr
ENST00000342175.11:c.65320G>T (TTN) ENSP00000340554.6:p.Asp21774Tyr
ENST00000359218.10:c.65119G>T (TTN) ENSP00000352154.5:p.Asp21707Tyr
ENST00000342175.10:c.65320G>T (TTN) ENSP00000340554.6:p.Asp21774Tyr
ENST00000342992.10:c.84235G>T (TTN) ENSP00000343764.6:p.Asp28079Tyr
ENST00000359218.9:c.65119G>T (TTN) ENSP00000352154.5:p.Asp21707Tyr
ENST00000460472.6:c.64744G>T (TTN) ENSP00000434586.1:p.Asp21582Tyr
ENST00000589042.5:c.91939G>T (TTN) MANE Select ENSP00000467141.1:p.Asp30647Tyr
ENST00000591111.5:c.87016G>T (TTN) ENSP00000465570.1:p.Asp29006Tyr
ENST00000615779.4:c.87016G>T (TTN) ENSP00000483597.1:p.Asp29006Tyr
NM_001256850.1:c.87016G>T (TTN) NP_001243779.1:p.Asp29006Tyr
NM_001267550.2:c.91939G>T (TTN) MANE Select NP_001254479.2:p.Asp30647Tyr
NM_003319.4:c.64744G>T (TTN) NP_003310.4:p.Asp21582Tyr
NM_133378.4:c.84235G>T (TTN) NP_596869.4:p.Asp28079Tyr
NM_133432.3:c.65119G>T (TTN) NP_597676.3:p.Asp21707Tyr
NM_133437.4:c.65320G>T (TTN) NP_597681.4:p.Asp21774Tyr
NR_038271.1:n.447-21517C>A (TTN-AS1)
NR_038272.1:n.2043+7422C>A (TTN-AS1)
XM_011511729.1:c.91036G>T (TTN) XP_011510031.1:p.Asp30346Tyr
XM_011511730.1:c.64930G>T (TTN) XP_011510032.1:p.Asp21644Tyr
XM_011511731.1:c.64789G>T (TTN) XP_011510033.1:p.Asp21597Tyr
XM_017004819.1:c.90832G>T (TTN) XP_016860308.1:p.Asp30278Tyr
XM_017004820.1:c.86230G>T (TTN) XP_016860309.1:p.Asp28744Tyr
XM_017004821.1:c.86227G>T (TTN) XP_016860310.1:p.Asp28743Tyr
XM_017004822.1:c.83269G>T (TTN) XP_016860311.1:p.Asp27757Tyr
XM_017004823.1:c.64885G>T (TTN) XP_016860312.1:p.Asp21629Tyr
XM_024453094.1:c.86380G>T (TTN) XP_024308862.1:p.Asp28794Tyr
XM_024453095.1:c.86377G>T (TTN) XP_024308863.1:p.Asp28793Tyr
XM_024453096.1:c.85810G>T (TTN) XP_024308864.1:p.Asp28604Tyr
XM_024453097.1:c.83152G>T (TTN) XP_024308865.1:p.Asp27718Tyr
XM_024453098.1:c.83071G>T (TTN) XP_024308866.1:p.Asp27691Tyr
XM_024453099.1:c.64834G>T (TTN) XP_024308867.1:p.Asp21612Tyr
XM_024453100.1:c.54688G>T (TTN) XP_024308868.1:p.Asp18230Tyr