Canonical Allele Identifier: CA349495619

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549782T>G , CM000664.2:g.178549782T>G GRCh38
NC_000002.11:g.179414509T>G , CM000664.1:g.179414509T>G GRCh37
NC_000002.10:g.179122755T>G NCBI36
NG_011618.3:g.286021A>C , LRG_391:g.286021A>C
NG_051363.1:g.31956T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84236A>C (TTN) ENSP00000343764.6:p.Asp28079Ala
ENST00000342175.11:c.65321A>C (TTN) ENSP00000340554.6:p.Asp21774Ala
ENST00000359218.10:c.65120A>C (TTN) ENSP00000352154.5:p.Asp21707Ala
ENST00000342175.10:c.65321A>C (TTN) ENSP00000340554.6:p.Asp21774Ala
ENST00000342992.10:c.84236A>C (TTN) ENSP00000343764.6:p.Asp28079Ala
ENST00000359218.9:c.65120A>C (TTN) ENSP00000352154.5:p.Asp21707Ala
ENST00000460472.6:c.64745A>C (TTN) ENSP00000434586.1:p.Asp21582Ala
ENST00000589042.5:c.91940A>C (TTN) MANE Select ENSP00000467141.1:p.Asp30647Ala
ENST00000591111.5:c.87017A>C (TTN) ENSP00000465570.1:p.Asp29006Ala
ENST00000615779.4:c.87017A>C (TTN) ENSP00000483597.1:p.Asp29006Ala
NM_001256850.1:c.87017A>C (TTN) NP_001243779.1:p.Asp29006Ala
NM_001267550.2:c.91940A>C (TTN) MANE Select NP_001254479.2:p.Asp30647Ala
NM_003319.4:c.64745A>C (TTN) NP_003310.4:p.Asp21582Ala
NM_133378.4:c.84236A>C (TTN) NP_596869.4:p.Asp28079Ala
NM_133432.3:c.65120A>C (TTN) NP_597676.3:p.Asp21707Ala
NM_133437.4:c.65321A>C (TTN) NP_597681.4:p.Asp21774Ala
NR_038271.1:n.447-21518T>G (TTN-AS1)
NR_038272.1:n.2043+7421T>G (TTN-AS1)
XM_011511729.1:c.91037A>C (TTN) XP_011510031.1:p.Asp30346Ala
XM_011511730.1:c.64931A>C (TTN) XP_011510032.1:p.Asp21644Ala
XM_011511731.1:c.64790A>C (TTN) XP_011510033.1:p.Asp21597Ala
XM_017004819.1:c.90833A>C (TTN) XP_016860308.1:p.Asp30278Ala
XM_017004820.1:c.86231A>C (TTN) XP_016860309.1:p.Asp28744Ala
XM_017004821.1:c.86228A>C (TTN) XP_016860310.1:p.Asp28743Ala
XM_017004822.1:c.83270A>C (TTN) XP_016860311.1:p.Asp27757Ala
XM_017004823.1:c.64886A>C (TTN) XP_016860312.1:p.Asp21629Ala
XM_024453094.1:c.86381A>C (TTN) XP_024308862.1:p.Asp28794Ala
XM_024453095.1:c.86378A>C (TTN) XP_024308863.1:p.Asp28793Ala
XM_024453096.1:c.85811A>C (TTN) XP_024308864.1:p.Asp28604Ala
XM_024453097.1:c.83153A>C (TTN) XP_024308865.1:p.Asp27718Ala
XM_024453098.1:c.83072A>C (TTN) XP_024308866.1:p.Asp27691Ala
XM_024453099.1:c.64835A>C (TTN) XP_024308867.1:p.Asp21612Ala
XM_024453100.1:c.54689A>C (TTN) XP_024308868.1:p.Asp18230Ala