Canonical Allele Identifier: CA349495882

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549804A>T , CM000664.2:g.178549804A>T GRCh38
NC_000002.11:g.179414531A>T , CM000664.1:g.179414531A>T GRCh37
NC_000002.10:g.179122777A>T NCBI36
NG_011618.3:g.285999T>A , LRG_391:g.285999T>A
NG_051363.1:g.31978A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84214T>A (TTN) ENSP00000343764.6:p.Trp28072Arg
ENST00000342175.11:c.65299T>A (TTN) ENSP00000340554.6:p.Trp21767Arg
ENST00000359218.10:c.65098T>A (TTN) ENSP00000352154.5:p.Trp21700Arg
ENST00000342175.10:c.65299T>A (TTN) ENSP00000340554.6:p.Trp21767Arg
ENST00000342992.10:c.84214T>A (TTN) ENSP00000343764.6:p.Trp28072Arg
ENST00000359218.9:c.65098T>A (TTN) ENSP00000352154.5:p.Trp21700Arg
ENST00000460472.6:c.64723T>A (TTN) ENSP00000434586.1:p.Trp21575Arg
ENST00000589042.5:c.91918T>A (TTN) MANE Select ENSP00000467141.1:p.Trp30640Arg
ENST00000591111.5:c.86995T>A (TTN) ENSP00000465570.1:p.Trp28999Arg
ENST00000615779.4:c.86995T>A (TTN) ENSP00000483597.1:p.Trp28999Arg
NM_001256850.1:c.86995T>A (TTN) NP_001243779.1:p.Trp28999Arg
NM_001267550.2:c.91918T>A (TTN) MANE Select NP_001254479.2:p.Trp30640Arg
NM_003319.4:c.64723T>A (TTN) NP_003310.4:p.Trp21575Arg
NM_133378.4:c.84214T>A (TTN) NP_596869.4:p.Trp28072Arg
NM_133432.3:c.65098T>A (TTN) NP_597676.3:p.Trp21700Arg
NM_133437.4:c.65299T>A (TTN) NP_597681.4:p.Trp21767Arg
NR_038271.1:n.447-21496A>T (TTN-AS1)
NR_038272.1:n.2043+7443A>T (TTN-AS1)
XM_011511729.1:c.91015T>A (TTN) XP_011510031.1:p.Trp30339Arg
XM_011511730.1:c.64909T>A (TTN) XP_011510032.1:p.Trp21637Arg
XM_011511731.1:c.64768T>A (TTN) XP_011510033.1:p.Trp21590Arg
XM_017004819.1:c.90811T>A (TTN) XP_016860308.1:p.Trp30271Arg
XM_017004820.1:c.86209T>A (TTN) XP_016860309.1:p.Trp28737Arg
XM_017004821.1:c.86206T>A (TTN) XP_016860310.1:p.Trp28736Arg
XM_017004822.1:c.83248T>A (TTN) XP_016860311.1:p.Trp27750Arg
XM_017004823.1:c.64864T>A (TTN) XP_016860312.1:p.Trp21622Arg
XM_024453094.1:c.86359T>A (TTN) XP_024308862.1:p.Trp28787Arg
XM_024453095.1:c.86356T>A (TTN) XP_024308863.1:p.Trp28786Arg
XM_024453096.1:c.85789T>A (TTN) XP_024308864.1:p.Trp28597Arg
XM_024453097.1:c.83131T>A (TTN) XP_024308865.1:p.Trp27711Arg
XM_024453098.1:c.83050T>A (TTN) XP_024308866.1:p.Trp27684Arg
XM_024453099.1:c.64813T>A (TTN) XP_024308867.1:p.Trp21605Arg
XM_024453100.1:c.54667T>A (TTN) XP_024308868.1:p.Trp18223Arg