Revel Score:
ENST00000342992
0.270
ENST00000460472
0.270
ENST00000342175
0.270
ENST00000359218
0.270
ENST00000356127
0.270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614646T>A , CM000664.2:g.178614646T>A | GRCh38 |
| NC_000002.11:g.179479373T>A , CM000664.1:g.179479373T>A | GRCh37 |
| NC_000002.10:g.179187618T>A | NCBI36 |
| NG_011618.3:g.221157A>T , LRG_391:g.221157A>T | |
| NG_051363.1:g.96820T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41164A>T (TTN) | ENSP00000343764.6:p.Ile13722Leu | |
| ENST00000342175.11:c.22249A>T (TTN) | ENSP00000340554.6:p.Ile7417Leu | |
| ENST00000359218.10:c.22048A>T (TTN) | ENSP00000352154.5:p.Ile7350Leu | |
| ENST00000342175.10:c.22249A>T (TTN) | ENSP00000340554.6:p.Ile7417Leu | |
| ENST00000342992.10:c.41164A>T (TTN) | ENSP00000343764.6:p.Ile13722Leu | |
| ENST00000359218.9:c.22048A>T (TTN) | ENSP00000352154.5:p.Ile7350Leu | |
| ENST00000460472.6:c.21673A>T (TTN) | ENSP00000434586.1:p.Ile7225Leu | |
| ENST00000589042.5:c.48868A>T (TTN) MANE Select | ENSP00000467141.1:p.Ile16290Leu | |
| ENST00000591111.5:c.43945A>T (TTN) | ENSP00000465570.1:p.Ile14649Leu | |
| ENST00000615779.4:c.43945A>T (TTN) | ENSP00000483597.1:p.Ile14649Leu | |
| NM_001256850.1:c.43945A>T (TTN) | NP_001243779.1:p.Ile14649Leu | |
| NM_001267550.2:c.48868A>T (TTN) MANE Select | NP_001254479.2:p.Ile16290Leu | |
| NM_003319.4:c.21673A>T (TTN) | NP_003310.4:p.Ile7225Leu | |
| NM_133378.4:c.41164A>T (TTN) | NP_596869.4:p.Ile13722Leu | |
| NM_133432.3:c.22048A>T (TTN) | NP_597676.3:p.Ile7350Leu | |
| NM_133437.4:c.22249A>T (TTN) | NP_597681.4:p.Ile7417Leu | |
| NR_038271.1:n.1394T>A (TTN-AS1) | ||
| XM_011511729.1:c.47965A>T (TTN) | XP_011510031.1:p.Ile15989Leu | |
| XM_011511730.1:c.21859A>T (TTN) | XP_011510032.1:p.Ile7287Leu | |
| XM_011511731.1:c.21718A>T (TTN) | XP_011510033.1:p.Ile7240Leu | |
| XM_017004819.1:c.47761A>T (TTN) | XP_016860308.1:p.Ile15921Leu | |
| XM_017004820.1:c.43159A>T (TTN) | XP_016860309.1:p.Ile14387Leu | |
| XM_017004821.1:c.43156A>T (TTN) | XP_016860310.1:p.Ile14386Leu | |
| XM_017004822.1:c.40198A>T (TTN) | XP_016860311.1:p.Ile13400Leu | |
| XM_017004823.1:c.21814A>T (TTN) | XP_016860312.1:p.Ile7272Leu | |
| XM_024453094.1:c.43309A>T (TTN) | XP_024308862.1:p.Ile14437Leu | |
| XM_024453095.1:c.43306A>T (TTN) | XP_024308863.1:p.Ile14436Leu | |
| XM_024453096.1:c.42739A>T (TTN) | XP_024308864.1:p.Ile14247Leu | |
| XM_024453097.1:c.40081A>T (TTN) | XP_024308865.1:p.Ile13361Leu | |
| XM_024453098.1:c.40000A>T (TTN) | XP_024308866.1:p.Ile13334Leu | |
| XM_024453099.1:c.21763A>T (TTN) | XP_024308867.1:p.Ile7255Leu | |
| XM_024453100.1:c.11617A>T (TTN) | XP_024308868.1:p.Ile3873Leu |