Canonical Allele Identifier: CA349512707

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552671A>G , CM000664.2:g.178552671A>G GRCh38
NC_000002.11:g.179417398A>G , CM000664.1:g.179417398A>G GRCh37
NC_000002.10:g.179125644A>G NCBI36
NG_011618.3:g.283132T>C , LRG_391:g.283132T>C
NG_051363.1:g.34845A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82525T>C (TTN) ENSP00000343764.6:p.Trp27509Arg
ENST00000342175.11:c.63610T>C (TTN) ENSP00000340554.6:p.Trp21204Arg
ENST00000359218.10:c.63409T>C (TTN) ENSP00000352154.5:p.Trp21137Arg
ENST00000342175.10:c.63610T>C (TTN) ENSP00000340554.6:p.Trp21204Arg
ENST00000342992.10:c.82525T>C (TTN) ENSP00000343764.6:p.Trp27509Arg
ENST00000359218.9:c.63409T>C (TTN) ENSP00000352154.5:p.Trp21137Arg
ENST00000460472.6:c.63034T>C (TTN) ENSP00000434586.1:p.Trp21012Arg
ENST00000589042.5:c.90229T>C (TTN) MANE Select ENSP00000467141.1:p.Trp30077Arg
ENST00000591111.5:c.85306T>C (TTN) ENSP00000465570.1:p.Trp28436Arg
ENST00000615779.4:c.85306T>C (TTN) ENSP00000483597.1:p.Trp28436Arg
NM_001256850.1:c.85306T>C (TTN) NP_001243779.1:p.Trp28436Arg
NM_001267550.2:c.90229T>C (TTN) MANE Select NP_001254479.2:p.Trp30077Arg
NM_003319.4:c.63034T>C (TTN) NP_003310.4:p.Trp21012Arg
NM_133378.4:c.82525T>C (TTN) NP_596869.4:p.Trp27509Arg
NM_133432.3:c.63409T>C (TTN) NP_597676.3:p.Trp21137Arg
NM_133437.4:c.63610T>C (TTN) NP_597681.4:p.Trp21204Arg
NR_038271.1:n.447-18629A>G (TTN-AS1)
NR_038272.1:n.2043+10310A>G (TTN-AS1)
XM_011511729.1:c.89326T>C (TTN) XP_011510031.1:p.Trp29776Arg
XM_011511730.1:c.63220T>C (TTN) XP_011510032.1:p.Trp21074Arg
XM_011511731.1:c.63079T>C (TTN) XP_011510033.1:p.Trp21027Arg
XM_017004819.1:c.89122T>C (TTN) XP_016860308.1:p.Trp29708Arg
XM_017004820.1:c.84520T>C (TTN) XP_016860309.1:p.Trp28174Arg
XM_017004821.1:c.84517T>C (TTN) XP_016860310.1:p.Trp28173Arg
XM_017004822.1:c.81559T>C (TTN) XP_016860311.1:p.Trp27187Arg
XM_017004823.1:c.63175T>C (TTN) XP_016860312.1:p.Trp21059Arg
XM_024453094.1:c.84670T>C (TTN) XP_024308862.1:p.Trp28224Arg
XM_024453095.1:c.84667T>C (TTN) XP_024308863.1:p.Trp28223Arg
XM_024453096.1:c.84100T>C (TTN) XP_024308864.1:p.Trp28034Arg
XM_024453097.1:c.81442T>C (TTN) XP_024308865.1:p.Trp27148Arg
XM_024453098.1:c.81361T>C (TTN) XP_024308866.1:p.Trp27121Arg
XM_024453099.1:c.63124T>C (TTN) XP_024308867.1:p.Trp21042Arg
XM_024453100.1:c.52978T>C (TTN) XP_024308868.1:p.Trp17660Arg