Canonical Allele Identifier: CA349501150

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551062T>G , CM000664.2:g.178551062T>G GRCh38
NC_000002.11:g.179415789T>G , CM000664.1:g.179415789T>G GRCh37
NC_000002.10:g.179124035T>G NCBI36
NG_011618.3:g.284741A>C , LRG_391:g.284741A>C
NG_051363.1:g.33236T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83765A>C (TTN) ENSP00000343764.6:p.Asp27922Ala
ENST00000342175.11:c.64850A>C (TTN) ENSP00000340554.6:p.Asp21617Ala
ENST00000359218.10:c.64649A>C (TTN) ENSP00000352154.5:p.Asp21550Ala
ENST00000342175.10:c.64850A>C (TTN) ENSP00000340554.6:p.Asp21617Ala
ENST00000342992.10:c.83765A>C (TTN) ENSP00000343764.6:p.Asp27922Ala
ENST00000359218.9:c.64649A>C (TTN) ENSP00000352154.5:p.Asp21550Ala
ENST00000460472.6:c.64274A>C (TTN) ENSP00000434586.1:p.Asp21425Ala
ENST00000589042.5:c.91469A>C (TTN) MANE Select ENSP00000467141.1:p.Asp30490Ala
ENST00000591111.5:c.86546A>C (TTN) ENSP00000465570.1:p.Asp28849Ala
ENST00000615779.4:c.86546A>C (TTN) ENSP00000483597.1:p.Asp28849Ala
NM_001256850.1:c.86546A>C (TTN) NP_001243779.1:p.Asp28849Ala
NM_001267550.2:c.91469A>C (TTN) MANE Select NP_001254479.2:p.Asp30490Ala
NM_003319.4:c.64274A>C (TTN) NP_003310.4:p.Asp21425Ala
NM_133378.4:c.83765A>C (TTN) NP_596869.4:p.Asp27922Ala
NM_133432.3:c.64649A>C (TTN) NP_597676.3:p.Asp21550Ala
NM_133437.4:c.64850A>C (TTN) NP_597681.4:p.Asp21617Ala
NR_038271.1:n.447-20238T>G (TTN-AS1)
NR_038272.1:n.2043+8701T>G (TTN-AS1)
XM_011511729.1:c.90566A>C (TTN) XP_011510031.1:p.Asp30189Ala
XM_011511730.1:c.64460A>C (TTN) XP_011510032.1:p.Asp21487Ala
XM_011511731.1:c.64319A>C (TTN) XP_011510033.1:p.Asp21440Ala
XM_017004819.1:c.90362A>C (TTN) XP_016860308.1:p.Asp30121Ala
XM_017004820.1:c.85760A>C (TTN) XP_016860309.1:p.Asp28587Ala
XM_017004821.1:c.85757A>C (TTN) XP_016860310.1:p.Asp28586Ala
XM_017004822.1:c.82799A>C (TTN) XP_016860311.1:p.Asp27600Ala
XM_017004823.1:c.64415A>C (TTN) XP_016860312.1:p.Asp21472Ala
XM_024453094.1:c.85910A>C (TTN) XP_024308862.1:p.Asp28637Ala
XM_024453095.1:c.85907A>C (TTN) XP_024308863.1:p.Asp28636Ala
XM_024453096.1:c.85340A>C (TTN) XP_024308864.1:p.Asp28447Ala
XM_024453097.1:c.82682A>C (TTN) XP_024308865.1:p.Asp27561Ala
XM_024453098.1:c.82601A>C (TTN) XP_024308866.1:p.Asp27534Ala
XM_024453099.1:c.64364A>C (TTN) XP_024308867.1:p.Asp21455Ala
XM_024453100.1:c.54218A>C (TTN) XP_024308868.1:p.Asp18073Ala