Revel Score:
ENST00000342992
0.070
ENST00000460472
0.070
ENST00000342175
0.070
ENST00000359218
0.070
ENST00000356127
0.070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614559C>T , CM000664.2:g.178614559C>T | GRCh38 |
| NC_000002.11:g.179479286C>T , CM000664.1:g.179479286C>T | GRCh37 |
| NC_000002.10:g.179187531C>T | NCBI36 |
| NG_011618.3:g.221244G>A , LRG_391:g.221244G>A | |
| NG_051363.1:g.96733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41251G>A (TTN) | ENSP00000343764.6:p.Val13751Ile | |
| ENST00000342175.11:c.22336G>A (TTN) | ENSP00000340554.6:p.Val7446Ile | |
| ENST00000359218.10:c.22135G>A (TTN) | ENSP00000352154.5:p.Val7379Ile | |
| ENST00000342175.10:c.22336G>A (TTN) | ENSP00000340554.6:p.Val7446Ile | |
| ENST00000342992.10:c.41251G>A (TTN) | ENSP00000343764.6:p.Val13751Ile | |
| ENST00000359218.9:c.22135G>A (TTN) | ENSP00000352154.5:p.Val7379Ile | |
| ENST00000460472.6:c.21760G>A (TTN) | ENSP00000434586.1:p.Val7254Ile | |
| ENST00000589042.5:c.48955G>A (TTN) MANE Select | ENSP00000467141.1:p.Val16319Ile | |
| ENST00000591111.5:c.44032G>A (TTN) | ENSP00000465570.1:p.Val14678Ile | |
| ENST00000615779.4:c.44032G>A (TTN) | ENSP00000483597.1:p.Val14678Ile | |
| NM_001256850.1:c.44032G>A (TTN) | NP_001243779.1:p.Val14678Ile | |
| NM_001267550.2:c.48955G>A (TTN) MANE Select | NP_001254479.2:p.Val16319Ile | |
| NM_003319.4:c.21760G>A (TTN) | NP_003310.4:p.Val7254Ile | |
| NM_133378.4:c.41251G>A (TTN) | NP_596869.4:p.Val13751Ile | |
| NM_133432.3:c.22135G>A (TTN) | NP_597676.3:p.Val7379Ile | |
| NM_133437.4:c.22336G>A (TTN) | NP_597681.4:p.Val7446Ile | |
| NR_038271.1:n.1307C>T (TTN-AS1) | ||
| XM_011511729.1:c.48052G>A (TTN) | XP_011510031.1:p.Val16018Ile | |
| XM_011511730.1:c.21946G>A (TTN) | XP_011510032.1:p.Val7316Ile | |
| XM_011511731.1:c.21805G>A (TTN) | XP_011510033.1:p.Val7269Ile | |
| XM_017004819.1:c.47848G>A (TTN) | XP_016860308.1:p.Val15950Ile | |
| XM_017004820.1:c.43246G>A (TTN) | XP_016860309.1:p.Val14416Ile | |
| XM_017004821.1:c.43243G>A (TTN) | XP_016860310.1:p.Val14415Ile | |
| XM_017004822.1:c.40285G>A (TTN) | XP_016860311.1:p.Val13429Ile | |
| XM_017004823.1:c.21901G>A (TTN) | XP_016860312.1:p.Val7301Ile | |
| XM_024453094.1:c.43396G>A (TTN) | XP_024308862.1:p.Val14466Ile | |
| XM_024453095.1:c.43393G>A (TTN) | XP_024308863.1:p.Val14465Ile | |
| XM_024453096.1:c.42826G>A (TTN) | XP_024308864.1:p.Val14276Ile | |
| XM_024453097.1:c.40168G>A (TTN) | XP_024308865.1:p.Val13390Ile | |
| XM_024453098.1:c.40087G>A (TTN) | XP_024308866.1:p.Val13363Ile | |
| XM_024453099.1:c.21850G>A (TTN) | XP_024308867.1:p.Val7284Ile | |
| XM_024453100.1:c.11704G>A (TTN) | XP_024308868.1:p.Val3902Ile |