Revel Score:
ENST00000342992
0.196
ENST00000460472
0.196
ENST00000342175
0.196
ENST00000359218
0.196
ENST00000356127
0.196
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614556C>G , CM000664.2:g.178614556C>G | GRCh38 |
| NC_000002.11:g.179479283C>G , CM000664.1:g.179479283C>G | GRCh37 |
| NC_000002.10:g.179187528C>G | NCBI36 |
| NG_011618.3:g.221247G>C , LRG_391:g.221247G>C | |
| NG_051363.1:g.96730C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41254G>C (TTN) | ENSP00000343764.6:p.Asp13752His | |
| ENST00000342175.11:c.22339G>C (TTN) | ENSP00000340554.6:p.Asp7447His | |
| ENST00000359218.10:c.22138G>C (TTN) | ENSP00000352154.5:p.Asp7380His | |
| ENST00000342175.10:c.22339G>C (TTN) | ENSP00000340554.6:p.Asp7447His | |
| ENST00000342992.10:c.41254G>C (TTN) | ENSP00000343764.6:p.Asp13752His | |
| ENST00000359218.9:c.22138G>C (TTN) | ENSP00000352154.5:p.Asp7380His | |
| ENST00000460472.6:c.21763G>C (TTN) | ENSP00000434586.1:p.Asp7255His | |
| ENST00000589042.5:c.48958G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp16320His | |
| ENST00000591111.5:c.44035G>C (TTN) | ENSP00000465570.1:p.Asp14679His | |
| ENST00000615779.4:c.44035G>C (TTN) | ENSP00000483597.1:p.Asp14679His | |
| NM_001256850.1:c.44035G>C (TTN) | NP_001243779.1:p.Asp14679His | |
| NM_001267550.2:c.48958G>C (TTN) MANE Select | NP_001254479.2:p.Asp16320His | |
| NM_003319.4:c.21763G>C (TTN) | NP_003310.4:p.Asp7255His | |
| NM_133378.4:c.41254G>C (TTN) | NP_596869.4:p.Asp13752His | |
| NM_133432.3:c.22138G>C (TTN) | NP_597676.3:p.Asp7380His | |
| NM_133437.4:c.22339G>C (TTN) | NP_597681.4:p.Asp7447His | |
| NR_038271.1:n.1304C>G (TTN-AS1) | ||
| XM_011511729.1:c.48055G>C (TTN) | XP_011510031.1:p.Asp16019His | |
| XM_011511730.1:c.21949G>C (TTN) | XP_011510032.1:p.Asp7317His | |
| XM_011511731.1:c.21808G>C (TTN) | XP_011510033.1:p.Asp7270His | |
| XM_017004819.1:c.47851G>C (TTN) | XP_016860308.1:p.Asp15951His | |
| XM_017004820.1:c.43249G>C (TTN) | XP_016860309.1:p.Asp14417His | |
| XM_017004821.1:c.43246G>C (TTN) | XP_016860310.1:p.Asp14416His | |
| XM_017004822.1:c.40288G>C (TTN) | XP_016860311.1:p.Asp13430His | |
| XM_017004823.1:c.21904G>C (TTN) | XP_016860312.1:p.Asp7302His | |
| XM_024453094.1:c.43399G>C (TTN) | XP_024308862.1:p.Asp14467His | |
| XM_024453095.1:c.43396G>C (TTN) | XP_024308863.1:p.Asp14466His | |
| XM_024453096.1:c.42829G>C (TTN) | XP_024308864.1:p.Asp14277His | |
| XM_024453097.1:c.40171G>C (TTN) | XP_024308865.1:p.Asp13391His | |
| XM_024453098.1:c.40090G>C (TTN) | XP_024308866.1:p.Asp13364His | |
| XM_024453099.1:c.21853G>C (TTN) | XP_024308867.1:p.Asp7285His | |
| XM_024453100.1:c.11707G>C (TTN) | XP_024308868.1:p.Asp3903His |