Revel Score:
ENST00000342992
0.332
ENST00000460472
0.332
ENST00000342175
0.332
ENST00000359218
0.332
ENST00000356127
0.332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614750G>C , CM000664.2:g.178614750G>C | GRCh38 |
| NC_000002.11:g.179479477G>C , CM000664.1:g.179479477G>C | GRCh37 |
| NC_000002.10:g.179187722G>C | NCBI36 |
| NG_011618.3:g.221053C>G , LRG_391:g.221053C>G | |
| NG_051363.1:g.96924G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41060C>G (TTN) | ENSP00000343764.6:p.Ala13687Gly | |
| ENST00000342175.11:c.22145C>G (TTN) | ENSP00000340554.6:p.Ala7382Gly | |
| ENST00000359218.10:c.21944C>G (TTN) | ENSP00000352154.5:p.Ala7315Gly | |
| ENST00000342175.10:c.22145C>G (TTN) | ENSP00000340554.6:p.Ala7382Gly | |
| ENST00000342992.10:c.41060C>G (TTN) | ENSP00000343764.6:p.Ala13687Gly | |
| ENST00000359218.9:c.21944C>G (TTN) | ENSP00000352154.5:p.Ala7315Gly | |
| ENST00000460472.6:c.21569C>G (TTN) | ENSP00000434586.1:p.Ala7190Gly | |
| ENST00000589042.5:c.48764C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala16255Gly | |
| ENST00000591111.5:c.43841C>G (TTN) | ENSP00000465570.1:p.Ala14614Gly | |
| ENST00000615779.4:c.43841C>G (TTN) | ENSP00000483597.1:p.Ala14614Gly | |
| NM_001256850.1:c.43841C>G (TTN) | NP_001243779.1:p.Ala14614Gly | |
| NM_001267550.2:c.48764C>G (TTN) MANE Select | NP_001254479.2:p.Ala16255Gly | |
| NM_003319.4:c.21569C>G (TTN) | NP_003310.4:p.Ala7190Gly | |
| NM_133378.4:c.41060C>G (TTN) | NP_596869.4:p.Ala13687Gly | |
| NM_133432.3:c.21944C>G (TTN) | NP_597676.3:p.Ala7315Gly | |
| NM_133437.4:c.22145C>G (TTN) | NP_597681.4:p.Ala7382Gly | |
| NR_038271.1:n.1498G>C (TTN-AS1) | ||
| XM_011511729.1:c.47861C>G (TTN) | XP_011510031.1:p.Ala15954Gly | |
| XM_011511730.1:c.21755C>G (TTN) | XP_011510032.1:p.Ala7252Gly | |
| XM_011511731.1:c.21614C>G (TTN) | XP_011510033.1:p.Ala7205Gly | |
| XM_017004819.1:c.47657C>G (TTN) | XP_016860308.1:p.Ala15886Gly | |
| XM_017004820.1:c.43055C>G (TTN) | XP_016860309.1:p.Ala14352Gly | |
| XM_017004821.1:c.43052C>G (TTN) | XP_016860310.1:p.Ala14351Gly | |
| XM_017004822.1:c.40094C>G (TTN) | XP_016860311.1:p.Ala13365Gly | |
| XM_017004823.1:c.21710C>G (TTN) | XP_016860312.1:p.Ala7237Gly | |
| XM_024453094.1:c.43205C>G (TTN) | XP_024308862.1:p.Ala14402Gly | |
| XM_024453095.1:c.43202C>G (TTN) | XP_024308863.1:p.Ala14401Gly | |
| XM_024453096.1:c.42635C>G (TTN) | XP_024308864.1:p.Ala14212Gly | |
| XM_024453097.1:c.39977C>G (TTN) | XP_024308865.1:p.Ala13326Gly | |
| XM_024453098.1:c.39896C>G (TTN) | XP_024308866.1:p.Ala13299Gly | |
| XM_024453099.1:c.21659C>G (TTN) | XP_024308867.1:p.Ala7220Gly | |
| XM_024453100.1:c.11513C>G (TTN) | XP_024308868.1:p.Ala3838Gly |