Revel Score:
ENST00000342992
0.834
ENST00000460472
0.834
ENST00000342175
0.834
ENST00000359218
0.834
ENST00000356127
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586609A>T , CM000664.2:g.178586609A>T | GRCh38 |
| NC_000002.11:g.179451336A>T , CM000664.1:g.179451336A>T | GRCh37 |
| NC_000002.10:g.179159582A>T | NCBI36 |
| NG_011618.3:g.249194T>A , LRG_391:g.249194T>A | |
| NG_051363.1:g.68783A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56588T>A (TTN) | ENSP00000343764.6:p.Leu18863Gln | |
| ENST00000342175.11:c.37673T>A (TTN) | ENSP00000340554.6:p.Leu12558Gln | |
| ENST00000359218.10:c.37472T>A (TTN) | ENSP00000352154.5:p.Leu12491Gln | |
| ENST00000342175.10:c.37673T>A (TTN) | ENSP00000340554.6:p.Leu12558Gln | |
| ENST00000342992.10:c.56588T>A (TTN) | ENSP00000343764.6:p.Leu18863Gln | |
| ENST00000359218.9:c.37472T>A (TTN) | ENSP00000352154.5:p.Leu12491Gln | |
| ENST00000460472.6:c.37097T>A (TTN) | ENSP00000434586.1:p.Leu12366Gln | |
| ENST00000589042.5:c.64292T>A (TTN) MANE Select | ENSP00000467141.1:p.Leu21431Gln | |
| ENST00000591111.5:c.59369T>A (TTN) | ENSP00000465570.1:p.Leu19790Gln | |
| ENST00000615779.4:c.59369T>A (TTN) | ENSP00000483597.1:p.Leu19790Gln | |
| NM_001256850.1:c.59369T>A (TTN) | NP_001243779.1:p.Leu19790Gln | |
| NM_001267550.2:c.64292T>A (TTN) MANE Select | NP_001254479.2:p.Leu21431Gln | |
| NM_003319.4:c.37097T>A (TTN) | NP_003310.4:p.Leu12366Gln | |
| NM_133378.4:c.56588T>A (TTN) | NP_596869.4:p.Leu18863Gln | |
| NM_133432.3:c.37472T>A (TTN) | NP_597676.3:p.Leu12491Gln | |
| NM_133437.4:c.37673T>A (TTN) | NP_597681.4:p.Leu12558Gln | |
| NR_038271.1:n.597-10987A>T (TTN-AS1) | ||
| NR_038272.1:n.3188+1616A>T (TTN-AS1) | ||
| XM_011511729.1:c.63389T>A (TTN) | XP_011510031.1:p.Leu21130Gln | |
| XM_011511730.1:c.37283T>A (TTN) | XP_011510032.1:p.Leu12428Gln | |
| XM_011511731.1:c.37142T>A (TTN) | XP_011510033.1:p.Leu12381Gln | |
| XM_017004819.1:c.63185T>A (TTN) | XP_016860308.1:p.Leu21062Gln | |
| XM_017004820.1:c.58583T>A (TTN) | XP_016860309.1:p.Leu19528Gln | |
| XM_017004821.1:c.58580T>A (TTN) | XP_016860310.1:p.Leu19527Gln | |
| XM_017004822.1:c.55622T>A (TTN) | XP_016860311.1:p.Leu18541Gln | |
| XM_017004823.1:c.37238T>A (TTN) | XP_016860312.1:p.Leu12413Gln | |
| XM_024453094.1:c.58733T>A (TTN) | XP_024308862.1:p.Leu19578Gln | |
| XM_024453095.1:c.58730T>A (TTN) | XP_024308863.1:p.Leu19577Gln | |
| XM_024453096.1:c.58163T>A (TTN) | XP_024308864.1:p.Leu19388Gln | |
| XM_024453097.1:c.55505T>A (TTN) | XP_024308865.1:p.Leu18502Gln | |
| XM_024453098.1:c.55424T>A (TTN) | XP_024308866.1:p.Leu18475Gln | |
| XM_024453099.1:c.37187T>A (TTN) | XP_024308867.1:p.Leu12396Gln | |
| XM_024453100.1:c.27041T>A (TTN) | XP_024308868.1:p.Leu9014Gln |