Revel Score:
ENST00000342992
0.299
ENST00000460472
0.299
ENST00000342175
0.299
ENST00000359218
0.299
ENST00000356127
0.299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607494T>G , CM000664.2:g.178607494T>G | GRCh38 |
| NC_000002.11:g.179472221T>G , CM000664.1:g.179472221T>G | GRCh37 |
| NC_000002.10:g.179180466T>G | NCBI36 |
| NG_011618.3:g.228309A>C , LRG_391:g.228309A>C | |
| NG_051363.1:g.89668T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45490A>C (TTN) | ENSP00000343764.6:p.Lys15164Gln | |
| ENST00000342175.11:c.26575A>C (TTN) | ENSP00000340554.6:p.Lys8859Gln | |
| ENST00000359218.10:c.26374A>C (TTN) | ENSP00000352154.5:p.Lys8792Gln | |
| ENST00000342175.10:c.26575A>C (TTN) | ENSP00000340554.6:p.Lys8859Gln | |
| ENST00000342992.10:c.45490A>C (TTN) | ENSP00000343764.6:p.Lys15164Gln | |
| ENST00000359218.9:c.26374A>C (TTN) | ENSP00000352154.5:p.Lys8792Gln | |
| ENST00000460472.6:c.25999A>C (TTN) | ENSP00000434586.1:p.Lys8667Gln | |
| ENST00000589042.5:c.53194A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys17732Gln | |
| ENST00000591111.5:c.48271A>C (TTN) | ENSP00000465570.1:p.Lys16091Gln | |
| ENST00000615779.4:c.48271A>C (TTN) | ENSP00000483597.1:p.Lys16091Gln | |
| NM_001256850.1:c.48271A>C (TTN) | NP_001243779.1:p.Lys16091Gln | |
| NM_001267550.2:c.53194A>C (TTN) MANE Select | NP_001254479.2:p.Lys17732Gln | |
| NM_003319.4:c.25999A>C (TTN) | NP_003310.4:p.Lys8667Gln | |
| NM_133378.4:c.45490A>C (TTN) | NP_596869.4:p.Lys15164Gln | |
| NM_133432.3:c.26374A>C (TTN) | NP_597676.3:p.Lys8792Gln | |
| NM_133437.4:c.26575A>C (TTN) | NP_597681.4:p.Lys8859Gln | |
| NR_038271.1:n.683-673T>G (TTN-AS1) | ||
| XM_011511729.1:c.52291A>C (TTN) | XP_011510031.1:p.Lys17431Gln | |
| XM_011511730.1:c.26185A>C (TTN) | XP_011510032.1:p.Lys8729Gln | |
| XM_011511731.1:c.26044A>C (TTN) | XP_011510033.1:p.Lys8682Gln | |
| XM_017004819.1:c.52087A>C (TTN) | XP_016860308.1:p.Lys17363Gln | |
| XM_017004820.1:c.47485A>C (TTN) | XP_016860309.1:p.Lys15829Gln | |
| XM_017004821.1:c.47482A>C (TTN) | XP_016860310.1:p.Lys15828Gln | |
| XM_017004822.1:c.44524A>C (TTN) | XP_016860311.1:p.Lys14842Gln | |
| XM_017004823.1:c.26140A>C (TTN) | XP_016860312.1:p.Lys8714Gln | |
| XM_024453094.1:c.47635A>C (TTN) | XP_024308862.1:p.Lys15879Gln | |
| XM_024453095.1:c.47632A>C (TTN) | XP_024308863.1:p.Lys15878Gln | |
| XM_024453096.1:c.47065A>C (TTN) | XP_024308864.1:p.Lys15689Gln | |
| XM_024453097.1:c.44407A>C (TTN) | XP_024308865.1:p.Lys14803Gln | |
| XM_024453098.1:c.44326A>C (TTN) | XP_024308866.1:p.Lys14776Gln | |
| XM_024453099.1:c.26089A>C (TTN) | XP_024308867.1:p.Lys8697Gln | |
| XM_024453100.1:c.15943A>C (TTN) | XP_024308868.1:p.Lys5315Gln |