Revel Score:
ENST00000342992
0.779
ENST00000460472
0.779
ENST00000342175
0.779
ENST00000359218
0.779
ENST00000356127
0.779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614645A>T , CM000664.2:g.178614645A>T | GRCh38 |
| NC_000002.11:g.179479372A>T , CM000664.1:g.179479372A>T | GRCh37 |
| NC_000002.10:g.179187617A>T | NCBI36 |
| NG_011618.3:g.221158T>A , LRG_391:g.221158T>A | |
| NG_051363.1:g.96819A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41165T>A (TTN) | ENSP00000343764.6:p.Ile13722Lys | |
| ENST00000342175.11:c.22250T>A (TTN) | ENSP00000340554.6:p.Ile7417Lys | |
| ENST00000359218.10:c.22049T>A (TTN) | ENSP00000352154.5:p.Ile7350Lys | |
| ENST00000342175.10:c.22250T>A (TTN) | ENSP00000340554.6:p.Ile7417Lys | |
| ENST00000342992.10:c.41165T>A (TTN) | ENSP00000343764.6:p.Ile13722Lys | |
| ENST00000359218.9:c.22049T>A (TTN) | ENSP00000352154.5:p.Ile7350Lys | |
| ENST00000460472.6:c.21674T>A (TTN) | ENSP00000434586.1:p.Ile7225Lys | |
| ENST00000589042.5:c.48869T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile16290Lys | |
| ENST00000591111.5:c.43946T>A (TTN) | ENSP00000465570.1:p.Ile14649Lys | |
| ENST00000615779.4:c.43946T>A (TTN) | ENSP00000483597.1:p.Ile14649Lys | |
| NM_001256850.1:c.43946T>A (TTN) | NP_001243779.1:p.Ile14649Lys | |
| NM_001267550.2:c.48869T>A (TTN) MANE Select | NP_001254479.2:p.Ile16290Lys | |
| NM_003319.4:c.21674T>A (TTN) | NP_003310.4:p.Ile7225Lys | |
| NM_133378.4:c.41165T>A (TTN) | NP_596869.4:p.Ile13722Lys | |
| NM_133432.3:c.22049T>A (TTN) | NP_597676.3:p.Ile7350Lys | |
| NM_133437.4:c.22250T>A (TTN) | NP_597681.4:p.Ile7417Lys | |
| NR_038271.1:n.1393A>T (TTN-AS1) | ||
| XM_011511729.1:c.47966T>A (TTN) | XP_011510031.1:p.Ile15989Lys | |
| XM_011511730.1:c.21860T>A (TTN) | XP_011510032.1:p.Ile7287Lys | |
| XM_011511731.1:c.21719T>A (TTN) | XP_011510033.1:p.Ile7240Lys | |
| XM_017004819.1:c.47762T>A (TTN) | XP_016860308.1:p.Ile15921Lys | |
| XM_017004820.1:c.43160T>A (TTN) | XP_016860309.1:p.Ile14387Lys | |
| XM_017004821.1:c.43157T>A (TTN) | XP_016860310.1:p.Ile14386Lys | |
| XM_017004822.1:c.40199T>A (TTN) | XP_016860311.1:p.Ile13400Lys | |
| XM_017004823.1:c.21815T>A (TTN) | XP_016860312.1:p.Ile7272Lys | |
| XM_024453094.1:c.43310T>A (TTN) | XP_024308862.1:p.Ile14437Lys | |
| XM_024453095.1:c.43307T>A (TTN) | XP_024308863.1:p.Ile14436Lys | |
| XM_024453096.1:c.42740T>A (TTN) | XP_024308864.1:p.Ile14247Lys | |
| XM_024453097.1:c.40082T>A (TTN) | XP_024308865.1:p.Ile13361Lys | |
| XM_024453098.1:c.40001T>A (TTN) | XP_024308866.1:p.Ile13334Lys | |
| XM_024453099.1:c.21764T>A (TTN) | XP_024308867.1:p.Ile7255Lys | |
| XM_024453100.1:c.11618T>A (TTN) | XP_024308868.1:p.Ile3873Lys |