Revel Score:
ENST00000342992
0.624
ENST00000460472
0.624
ENST00000342175
0.624
ENST00000359218
0.624
ENST00000356127
0.624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614747G>C , CM000664.2:g.178614747G>C | GRCh38 |
| NC_000002.11:g.179479474G>C , CM000664.1:g.179479474G>C | GRCh37 |
| NC_000002.10:g.179187719G>C | NCBI36 |
| NG_011618.3:g.221056C>G , LRG_391:g.221056C>G | |
| NG_051363.1:g.96921G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41063C>G (TTN) | ENSP00000343764.6:p.Pro13688Arg | |
| ENST00000342175.11:c.22148C>G (TTN) | ENSP00000340554.6:p.Pro7383Arg | |
| ENST00000359218.10:c.21947C>G (TTN) | ENSP00000352154.5:p.Pro7316Arg | |
| ENST00000342175.10:c.22148C>G (TTN) | ENSP00000340554.6:p.Pro7383Arg | |
| ENST00000342992.10:c.41063C>G (TTN) | ENSP00000343764.6:p.Pro13688Arg | |
| ENST00000359218.9:c.21947C>G (TTN) | ENSP00000352154.5:p.Pro7316Arg | |
| ENST00000460472.6:c.21572C>G (TTN) | ENSP00000434586.1:p.Pro7191Arg | |
| ENST00000589042.5:c.48767C>G (TTN) MANE Select | ENSP00000467141.1:p.Pro16256Arg | |
| ENST00000591111.5:c.43844C>G (TTN) | ENSP00000465570.1:p.Pro14615Arg | |
| ENST00000615779.4:c.43844C>G (TTN) | ENSP00000483597.1:p.Pro14615Arg | |
| NM_001256850.1:c.43844C>G (TTN) | NP_001243779.1:p.Pro14615Arg | |
| NM_001267550.2:c.48767C>G (TTN) MANE Select | NP_001254479.2:p.Pro16256Arg | |
| NM_003319.4:c.21572C>G (TTN) | NP_003310.4:p.Pro7191Arg | |
| NM_133378.4:c.41063C>G (TTN) | NP_596869.4:p.Pro13688Arg | |
| NM_133432.3:c.21947C>G (TTN) | NP_597676.3:p.Pro7316Arg | |
| NM_133437.4:c.22148C>G (TTN) | NP_597681.4:p.Pro7383Arg | |
| NR_038271.1:n.1495G>C (TTN-AS1) | ||
| XM_011511729.1:c.47864C>G (TTN) | XP_011510031.1:p.Pro15955Arg | |
| XM_011511730.1:c.21758C>G (TTN) | XP_011510032.1:p.Pro7253Arg | |
| XM_011511731.1:c.21617C>G (TTN) | XP_011510033.1:p.Pro7206Arg | |
| XM_017004819.1:c.47660C>G (TTN) | XP_016860308.1:p.Pro15887Arg | |
| XM_017004820.1:c.43058C>G (TTN) | XP_016860309.1:p.Pro14353Arg | |
| XM_017004821.1:c.43055C>G (TTN) | XP_016860310.1:p.Pro14352Arg | |
| XM_017004822.1:c.40097C>G (TTN) | XP_016860311.1:p.Pro13366Arg | |
| XM_017004823.1:c.21713C>G (TTN) | XP_016860312.1:p.Pro7238Arg | |
| XM_024453094.1:c.43208C>G (TTN) | XP_024308862.1:p.Pro14403Arg | |
| XM_024453095.1:c.43205C>G (TTN) | XP_024308863.1:p.Pro14402Arg | |
| XM_024453096.1:c.42638C>G (TTN) | XP_024308864.1:p.Pro14213Arg | |
| XM_024453097.1:c.39980C>G (TTN) | XP_024308865.1:p.Pro13327Arg | |
| XM_024453098.1:c.39899C>G (TTN) | XP_024308866.1:p.Pro13300Arg | |
| XM_024453099.1:c.21662C>G (TTN) | XP_024308867.1:p.Pro7221Arg | |
| XM_024453100.1:c.11516C>G (TTN) | XP_024308868.1:p.Pro3839Arg |