Canonical Allele Identifier: CA349426288

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536432A>T , CM000664.2:g.178536432A>T GRCh38
NC_000002.11:g.179401159A>T , CM000664.1:g.179401159A>T GRCh37
NC_000002.10:g.179109405A>T NCBI36
NG_011618.3:g.299371T>A , LRG_391:g.299371T>A
NG_051363.1:g.18606A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.92611T>A (TTN) ENSP00000343764.6:p.Trp30871Arg
ENST00000342175.11:c.73696T>A (TTN) ENSP00000340554.6:p.Trp24566Arg
ENST00000359218.10:c.73495T>A (TTN) ENSP00000352154.5:p.Trp24499Arg
ENST00000342175.10:c.73696T>A (TTN) ENSP00000340554.6:p.Trp24566Arg
ENST00000342992.10:c.92611T>A (TTN) ENSP00000343764.6:p.Trp30871Arg
ENST00000359218.9:c.73495T>A (TTN) ENSP00000352154.5:p.Trp24499Arg
ENST00000460472.6:c.73120T>A (TTN) ENSP00000434586.1:p.Trp24374Arg
ENST00000589042.5:c.100315T>A (TTN) MANE Select ENSP00000467141.1:p.Trp33439Arg
ENST00000591111.5:c.95392T>A (TTN) ENSP00000465570.1:p.Trp31798Arg
ENST00000615779.4:c.95392T>A (TTN) ENSP00000483597.1:p.Trp31798Arg
NM_001256850.1:c.95392T>A (TTN) NP_001243779.1:p.Trp31798Arg
NM_001267550.2:c.100315T>A (TTN) MANE Select NP_001254479.2:p.Trp33439Arg
NM_003319.4:c.73120T>A (TTN) NP_003310.4:p.Trp24374Arg
NM_133378.4:c.92611T>A (TTN) NP_596869.4:p.Trp30871Arg
NM_133432.3:c.73495T>A (TTN) NP_597676.3:p.Trp24499Arg
NM_133437.4:c.73696T>A (TTN) NP_597681.4:p.Trp24566Arg
NR_038271.1:n.446+12796A>T (TTN-AS1)
NR_038272.1:n.316+604A>T (TTN-AS1)
XM_011511729.1:c.99412T>A (TTN) XP_011510031.1:p.Trp33138Arg
XM_011511730.1:c.73306T>A (TTN) XP_011510032.1:p.Trp24436Arg
XM_011511731.1:c.73165T>A (TTN) XP_011510033.1:p.Trp24389Arg
XM_017004819.1:c.99208T>A (TTN) XP_016860308.1:p.Trp33070Arg
XM_017004820.1:c.94606T>A (TTN) XP_016860309.1:p.Trp31536Arg
XM_017004821.1:c.94603T>A (TTN) XP_016860310.1:p.Trp31535Arg
XM_017004822.1:c.91645T>A (TTN) XP_016860311.1:p.Trp30549Arg
XM_017004823.1:c.73261T>A (TTN) XP_016860312.1:p.Trp24421Arg
XM_024453094.1:c.94756T>A (TTN) XP_024308862.1:p.Trp31586Arg
XM_024453095.1:c.94753T>A (TTN) XP_024308863.1:p.Trp31585Arg
XM_024453096.1:c.94186T>A (TTN) XP_024308864.1:p.Trp31396Arg
XM_024453097.1:c.91528T>A (TTN) XP_024308865.1:p.Trp30510Arg
XM_024453098.1:c.91447T>A (TTN) XP_024308866.1:p.Trp30483Arg
XM_024453099.1:c.73210T>A (TTN) XP_024308867.1:p.Trp24404Arg
XM_024453100.1:c.63064T>A (TTN) XP_024308868.1:p.Trp21022Arg