Revel Score:
ENST00000342992
0.836
ENST00000460472
0.836
ENST00000342175
0.836
ENST00000359218
0.836
ENST00000356127
0.836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614561A>C , CM000664.2:g.178614561A>C | GRCh38 |
| NC_000002.11:g.179479288A>C , CM000664.1:g.179479288A>C | GRCh37 |
| NC_000002.10:g.179187533A>C | NCBI36 |
| NG_011618.3:g.221242T>G , LRG_391:g.221242T>G | |
| NG_051363.1:g.96735A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41249T>G (TTN) | ENSP00000343764.6:p.Ile13750Ser | |
| ENST00000342175.11:c.22334T>G (TTN) | ENSP00000340554.6:p.Ile7445Ser | |
| ENST00000359218.10:c.22133T>G (TTN) | ENSP00000352154.5:p.Ile7378Ser | |
| ENST00000342175.10:c.22334T>G (TTN) | ENSP00000340554.6:p.Ile7445Ser | |
| ENST00000342992.10:c.41249T>G (TTN) | ENSP00000343764.6:p.Ile13750Ser | |
| ENST00000359218.9:c.22133T>G (TTN) | ENSP00000352154.5:p.Ile7378Ser | |
| ENST00000460472.6:c.21758T>G (TTN) | ENSP00000434586.1:p.Ile7253Ser | |
| ENST00000589042.5:c.48953T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile16318Ser | |
| ENST00000591111.5:c.44030T>G (TTN) | ENSP00000465570.1:p.Ile14677Ser | |
| ENST00000615779.4:c.44030T>G (TTN) | ENSP00000483597.1:p.Ile14677Ser | |
| NM_001256850.1:c.44030T>G (TTN) | NP_001243779.1:p.Ile14677Ser | |
| NM_001267550.2:c.48953T>G (TTN) MANE Select | NP_001254479.2:p.Ile16318Ser | |
| NM_003319.4:c.21758T>G (TTN) | NP_003310.4:p.Ile7253Ser | |
| NM_133378.4:c.41249T>G (TTN) | NP_596869.4:p.Ile13750Ser | |
| NM_133432.3:c.22133T>G (TTN) | NP_597676.3:p.Ile7378Ser | |
| NM_133437.4:c.22334T>G (TTN) | NP_597681.4:p.Ile7445Ser | |
| NR_038271.1:n.1309A>C (TTN-AS1) | ||
| XM_011511729.1:c.48050T>G (TTN) | XP_011510031.1:p.Ile16017Ser | |
| XM_011511730.1:c.21944T>G (TTN) | XP_011510032.1:p.Ile7315Ser | |
| XM_011511731.1:c.21803T>G (TTN) | XP_011510033.1:p.Ile7268Ser | |
| XM_017004819.1:c.47846T>G (TTN) | XP_016860308.1:p.Ile15949Ser | |
| XM_017004820.1:c.43244T>G (TTN) | XP_016860309.1:p.Ile14415Ser | |
| XM_017004821.1:c.43241T>G (TTN) | XP_016860310.1:p.Ile14414Ser | |
| XM_017004822.1:c.40283T>G (TTN) | XP_016860311.1:p.Ile13428Ser | |
| XM_017004823.1:c.21899T>G (TTN) | XP_016860312.1:p.Ile7300Ser | |
| XM_024453094.1:c.43394T>G (TTN) | XP_024308862.1:p.Ile14465Ser | |
| XM_024453095.1:c.43391T>G (TTN) | XP_024308863.1:p.Ile14464Ser | |
| XM_024453096.1:c.42824T>G (TTN) | XP_024308864.1:p.Ile14275Ser | |
| XM_024453097.1:c.40166T>G (TTN) | XP_024308865.1:p.Ile13389Ser | |
| XM_024453098.1:c.40085T>G (TTN) | XP_024308866.1:p.Ile13362Ser | |
| XM_024453099.1:c.21848T>G (TTN) | XP_024308867.1:p.Ile7283Ser | |
| XM_024453100.1:c.11702T>G (TTN) | XP_024308868.1:p.Ile3901Ser |