Canonical Allele Identifier: CA349650430

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574299A>T , CM000664.2:g.178574299A>T GRCh38
NC_000002.11:g.179439026A>T , CM000664.1:g.179439026A>T GRCh37
NC_000002.10:g.179147272A>T NCBI36
NG_011618.3:g.261504T>A , LRG_391:g.261504T>A
NG_051363.1:g.56473A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.64129T>A (TTN) ENSP00000343764.6:p.Trp21377Arg
ENST00000342175.11:c.45214T>A (TTN) ENSP00000340554.6:p.Trp15072Arg
ENST00000359218.10:c.45013T>A (TTN) ENSP00000352154.5:p.Trp15005Arg
ENST00000342175.10:c.45214T>A (TTN) ENSP00000340554.6:p.Trp15072Arg
ENST00000342992.10:c.64129T>A (TTN) ENSP00000343764.6:p.Trp21377Arg
ENST00000359218.9:c.45013T>A (TTN) ENSP00000352154.5:p.Trp15005Arg
ENST00000460472.6:c.44638T>A (TTN) ENSP00000434586.1:p.Trp14880Arg
ENST00000589042.5:c.71833T>A (TTN) MANE Select ENSP00000467141.1:p.Trp23945Arg
ENST00000591111.5:c.66910T>A (TTN) ENSP00000465570.1:p.Trp22304Arg
ENST00000615779.4:c.66910T>A (TTN) ENSP00000483597.1:p.Trp22304Arg
NM_001256850.1:c.66910T>A (TTN) NP_001243779.1:p.Trp22304Arg
NM_001267550.2:c.71833T>A (TTN) MANE Select NP_001254479.2:p.Trp23945Arg
NM_003319.4:c.44638T>A (TTN) NP_003310.4:p.Trp14880Arg
NM_133378.4:c.64129T>A (TTN) NP_596869.4:p.Trp21377Arg
NM_133432.3:c.45013T>A (TTN) NP_597676.3:p.Trp15005Arg
NM_133437.4:c.45214T>A (TTN) NP_597681.4:p.Trp15072Arg
NR_038271.1:n.596+2850A>T (TTN-AS1)
NR_038272.1:n.2044-8273A>T (TTN-AS1)
XM_011511729.1:c.70930T>A (TTN) XP_011510031.1:p.Trp23644Arg
XM_011511730.1:c.44824T>A (TTN) XP_011510032.1:p.Trp14942Arg
XM_011511731.1:c.44683T>A (TTN) XP_011510033.1:p.Trp14895Arg
XM_017004819.1:c.70726T>A (TTN) XP_016860308.1:p.Trp23576Arg
XM_017004820.1:c.66124T>A (TTN) XP_016860309.1:p.Trp22042Arg
XM_017004821.1:c.66121T>A (TTN) XP_016860310.1:p.Trp22041Arg
XM_017004822.1:c.63163T>A (TTN) XP_016860311.1:p.Trp21055Arg
XM_017004823.1:c.44779T>A (TTN) XP_016860312.1:p.Trp14927Arg
XM_024453094.1:c.66274T>A (TTN) XP_024308862.1:p.Trp22092Arg
XM_024453095.1:c.66271T>A (TTN) XP_024308863.1:p.Trp22091Arg
XM_024453096.1:c.65704T>A (TTN) XP_024308864.1:p.Trp21902Arg
XM_024453097.1:c.63046T>A (TTN) XP_024308865.1:p.Trp21016Arg
XM_024453098.1:c.62965T>A (TTN) XP_024308866.1:p.Trp20989Arg
XM_024453099.1:c.44728T>A (TTN) XP_024308867.1:p.Trp14910Arg
XM_024453100.1:c.34582T>A (TTN) XP_024308868.1:p.Trp11528Arg