Revel Score:
ENST00000342992
0.428
ENST00000460472
0.428
ENST00000342175
0.428
ENST00000359218
0.428
ENST00000356127
0.428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586717C>G , CM000664.2:g.178586717C>G | GRCh38 |
| NC_000002.11:g.179451444C>G , CM000664.1:g.179451444C>G | GRCh37 |
| NC_000002.10:g.179159690C>G | NCBI36 |
| NG_011618.3:g.249086G>C , LRG_391:g.249086G>C | |
| NG_051363.1:g.68891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56480G>C (TTN) | ENSP00000343764.6:p.Gly18827Ala | |
| ENST00000342175.11:c.37565G>C (TTN) | ENSP00000340554.6:p.Gly12522Ala | |
| ENST00000359218.10:c.37364G>C (TTN) | ENSP00000352154.5:p.Gly12455Ala | |
| ENST00000342175.10:c.37565G>C (TTN) | ENSP00000340554.6:p.Gly12522Ala | |
| ENST00000342992.10:c.56480G>C (TTN) | ENSP00000343764.6:p.Gly18827Ala | |
| ENST00000359218.9:c.37364G>C (TTN) | ENSP00000352154.5:p.Gly12455Ala | |
| ENST00000460472.6:c.36989G>C (TTN) | ENSP00000434586.1:p.Gly12330Ala | |
| ENST00000589042.5:c.64184G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly21395Ala | |
| ENST00000591111.5:c.59261G>C (TTN) | ENSP00000465570.1:p.Gly19754Ala | |
| ENST00000615779.4:c.59261G>C (TTN) | ENSP00000483597.1:p.Gly19754Ala | |
| NM_001256850.1:c.59261G>C (TTN) | NP_001243779.1:p.Gly19754Ala | |
| NM_001267550.2:c.64184G>C (TTN) MANE Select | NP_001254479.2:p.Gly21395Ala | |
| NM_003319.4:c.36989G>C (TTN) | NP_003310.4:p.Gly12330Ala | |
| NM_133378.4:c.56480G>C (TTN) | NP_596869.4:p.Gly18827Ala | |
| NM_133432.3:c.37364G>C (TTN) | NP_597676.3:p.Gly12455Ala | |
| NM_133437.4:c.37565G>C (TTN) | NP_597681.4:p.Gly12522Ala | |
| NR_038271.1:n.597-10879C>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1724C>G (TTN-AS1) | ||
| XM_011511729.1:c.63281G>C (TTN) | XP_011510031.1:p.Gly21094Ala | |
| XM_011511730.1:c.37175G>C (TTN) | XP_011510032.1:p.Gly12392Ala | |
| XM_011511731.1:c.37034G>C (TTN) | XP_011510033.1:p.Gly12345Ala | |
| XM_017004819.1:c.63077G>C (TTN) | XP_016860308.1:p.Gly21026Ala | |
| XM_017004820.1:c.58475G>C (TTN) | XP_016860309.1:p.Gly19492Ala | |
| XM_017004821.1:c.58472G>C (TTN) | XP_016860310.1:p.Gly19491Ala | |
| XM_017004822.1:c.55514G>C (TTN) | XP_016860311.1:p.Gly18505Ala | |
| XM_017004823.1:c.37130G>C (TTN) | XP_016860312.1:p.Gly12377Ala | |
| XM_024453094.1:c.58625G>C (TTN) | XP_024308862.1:p.Gly19542Ala | |
| XM_024453095.1:c.58622G>C (TTN) | XP_024308863.1:p.Gly19541Ala | |
| XM_024453096.1:c.58055G>C (TTN) | XP_024308864.1:p.Gly19352Ala | |
| XM_024453097.1:c.55397G>C (TTN) | XP_024308865.1:p.Gly18466Ala | |
| XM_024453098.1:c.55316G>C (TTN) | XP_024308866.1:p.Gly18439Ala | |
| XM_024453099.1:c.37079G>C (TTN) | XP_024308867.1:p.Gly12360Ala | |
| XM_024453100.1:c.26933G>C (TTN) | XP_024308868.1:p.Gly8978Ala |