Revel Score:
ENST00000342992
0.887
ENST00000460472
0.887
ENST00000342175
0.887
ENST00000359218
0.887
ENST00000356127
0.887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586609A>C , CM000664.2:g.178586609A>C | GRCh38 |
| NC_000002.11:g.179451336A>C , CM000664.1:g.179451336A>C | GRCh37 |
| NC_000002.10:g.179159582A>C | NCBI36 |
| NG_011618.3:g.249194T>G , LRG_391:g.249194T>G | |
| NG_051363.1:g.68783A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56588T>G (TTN) | ENSP00000343764.6:p.Leu18863Arg | |
| ENST00000342175.11:c.37673T>G (TTN) | ENSP00000340554.6:p.Leu12558Arg | |
| ENST00000359218.10:c.37472T>G (TTN) | ENSP00000352154.5:p.Leu12491Arg | |
| ENST00000342175.10:c.37673T>G (TTN) | ENSP00000340554.6:p.Leu12558Arg | |
| ENST00000342992.10:c.56588T>G (TTN) | ENSP00000343764.6:p.Leu18863Arg | |
| ENST00000359218.9:c.37472T>G (TTN) | ENSP00000352154.5:p.Leu12491Arg | |
| ENST00000460472.6:c.37097T>G (TTN) | ENSP00000434586.1:p.Leu12366Arg | |
| ENST00000589042.5:c.64292T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu21431Arg | |
| ENST00000591111.5:c.59369T>G (TTN) | ENSP00000465570.1:p.Leu19790Arg | |
| ENST00000615779.4:c.59369T>G (TTN) | ENSP00000483597.1:p.Leu19790Arg | |
| NM_001256850.1:c.59369T>G (TTN) | NP_001243779.1:p.Leu19790Arg | |
| NM_001267550.2:c.64292T>G (TTN) MANE Select | NP_001254479.2:p.Leu21431Arg | |
| NM_003319.4:c.37097T>G (TTN) | NP_003310.4:p.Leu12366Arg | |
| NM_133378.4:c.56588T>G (TTN) | NP_596869.4:p.Leu18863Arg | |
| NM_133432.3:c.37472T>G (TTN) | NP_597676.3:p.Leu12491Arg | |
| NM_133437.4:c.37673T>G (TTN) | NP_597681.4:p.Leu12558Arg | |
| NR_038271.1:n.597-10987A>C (TTN-AS1) | ||
| NR_038272.1:n.3188+1616A>C (TTN-AS1) | ||
| XM_011511729.1:c.63389T>G (TTN) | XP_011510031.1:p.Leu21130Arg | |
| XM_011511730.1:c.37283T>G (TTN) | XP_011510032.1:p.Leu12428Arg | |
| XM_011511731.1:c.37142T>G (TTN) | XP_011510033.1:p.Leu12381Arg | |
| XM_017004819.1:c.63185T>G (TTN) | XP_016860308.1:p.Leu21062Arg | |
| XM_017004820.1:c.58583T>G (TTN) | XP_016860309.1:p.Leu19528Arg | |
| XM_017004821.1:c.58580T>G (TTN) | XP_016860310.1:p.Leu19527Arg | |
| XM_017004822.1:c.55622T>G (TTN) | XP_016860311.1:p.Leu18541Arg | |
| XM_017004823.1:c.37238T>G (TTN) | XP_016860312.1:p.Leu12413Arg | |
| XM_024453094.1:c.58733T>G (TTN) | XP_024308862.1:p.Leu19578Arg | |
| XM_024453095.1:c.58730T>G (TTN) | XP_024308863.1:p.Leu19577Arg | |
| XM_024453096.1:c.58163T>G (TTN) | XP_024308864.1:p.Leu19388Arg | |
| XM_024453097.1:c.55505T>G (TTN) | XP_024308865.1:p.Leu18502Arg | |
| XM_024453098.1:c.55424T>G (TTN) | XP_024308866.1:p.Leu18475Arg | |
| XM_024453099.1:c.37187T>G (TTN) | XP_024308867.1:p.Leu12396Arg | |
| XM_024453100.1:c.27041T>G (TTN) | XP_024308868.1:p.Leu9014Arg |