Revel Score:
ENST00000342992
0.475
ENST00000460472
0.475
ENST00000342175
0.475
ENST00000359218
0.475
ENST00000356127
0.475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614733C>G , CM000664.2:g.178614733C>G | GRCh38 |
| NC_000002.11:g.179479460C>G , CM000664.1:g.179479460C>G | GRCh37 |
| NC_000002.10:g.179187705C>G | NCBI36 |
| NG_011618.3:g.221070G>C , LRG_391:g.221070G>C | |
| NG_051363.1:g.96907C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41077G>C (TTN) | ENSP00000343764.6:p.Asp13693His | |
| ENST00000342175.11:c.22162G>C (TTN) | ENSP00000340554.6:p.Asp7388His | |
| ENST00000359218.10:c.21961G>C (TTN) | ENSP00000352154.5:p.Asp7321His | |
| ENST00000342175.10:c.22162G>C (TTN) | ENSP00000340554.6:p.Asp7388His | |
| ENST00000342992.10:c.41077G>C (TTN) | ENSP00000343764.6:p.Asp13693His | |
| ENST00000359218.9:c.21961G>C (TTN) | ENSP00000352154.5:p.Asp7321His | |
| ENST00000460472.6:c.21586G>C (TTN) | ENSP00000434586.1:p.Asp7196His | |
| ENST00000589042.5:c.48781G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp16261His | |
| ENST00000591111.5:c.43858G>C (TTN) | ENSP00000465570.1:p.Asp14620His | |
| ENST00000615779.4:c.43858G>C (TTN) | ENSP00000483597.1:p.Asp14620His | |
| NM_001256850.1:c.43858G>C (TTN) | NP_001243779.1:p.Asp14620His | |
| NM_001267550.2:c.48781G>C (TTN) MANE Select | NP_001254479.2:p.Asp16261His | |
| NM_003319.4:c.21586G>C (TTN) | NP_003310.4:p.Asp7196His | |
| NM_133378.4:c.41077G>C (TTN) | NP_596869.4:p.Asp13693His | |
| NM_133432.3:c.21961G>C (TTN) | NP_597676.3:p.Asp7321His | |
| NM_133437.4:c.22162G>C (TTN) | NP_597681.4:p.Asp7388His | |
| NR_038271.1:n.1481C>G (TTN-AS1) | ||
| XM_011511729.1:c.47878G>C (TTN) | XP_011510031.1:p.Asp15960His | |
| XM_011511730.1:c.21772G>C (TTN) | XP_011510032.1:p.Asp7258His | |
| XM_011511731.1:c.21631G>C (TTN) | XP_011510033.1:p.Asp7211His | |
| XM_017004819.1:c.47674G>C (TTN) | XP_016860308.1:p.Asp15892His | |
| XM_017004820.1:c.43072G>C (TTN) | XP_016860309.1:p.Asp14358His | |
| XM_017004821.1:c.43069G>C (TTN) | XP_016860310.1:p.Asp14357His | |
| XM_017004822.1:c.40111G>C (TTN) | XP_016860311.1:p.Asp13371His | |
| XM_017004823.1:c.21727G>C (TTN) | XP_016860312.1:p.Asp7243His | |
| XM_024453094.1:c.43222G>C (TTN) | XP_024308862.1:p.Asp14408His | |
| XM_024453095.1:c.43219G>C (TTN) | XP_024308863.1:p.Asp14407His | |
| XM_024453096.1:c.42652G>C (TTN) | XP_024308864.1:p.Asp14218His | |
| XM_024453097.1:c.39994G>C (TTN) | XP_024308865.1:p.Asp13332His | |
| XM_024453098.1:c.39913G>C (TTN) | XP_024308866.1:p.Asp13305His | |
| XM_024453099.1:c.21676G>C (TTN) | XP_024308867.1:p.Asp7226His | |
| XM_024453100.1:c.11530G>C (TTN) | XP_024308868.1:p.Asp3844His |