Revel Score:
ENST00000342992
0.108
ENST00000460472
0.108
ENST00000342175
0.108
ENST00000359218
0.108
ENST00000356127
0.108
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531657A>C , CM000664.2:g.178531657A>C | GRCh38 |
| NC_000002.11:g.179396384A>C , CM000664.1:g.179396384A>C | GRCh37 |
| NC_000002.10:g.179104630A>C | NCBI36 |
| NG_011618.3:g.304146T>G , LRG_391:g.304146T>G | |
| NG_051363.1:g.13831A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97254T>G (TTN) | ENSP00000343764.6:p.Ser32418Arg | |
| ENST00000342175.11:c.78339T>G (TTN) | ENSP00000340554.6:p.Ser26113Arg | |
| ENST00000359218.10:c.78138T>G (TTN) | ENSP00000352154.5:p.Ser26046Arg | |
| ENST00000342175.10:c.78339T>G (TTN) | ENSP00000340554.6:p.Ser26113Arg | |
| ENST00000342992.10:c.97254T>G (TTN) | ENSP00000343764.6:p.Ser32418Arg | |
| ENST00000359218.9:c.78138T>G (TTN) | ENSP00000352154.5:p.Ser26046Arg | |
| ENST00000460472.6:c.77763T>G (TTN) | ENSP00000434586.1:p.Ser25921Arg | |
| ENST00000589042.5:c.104958T>G (TTN) MANE Select | ENSP00000467141.1:p.Ser34986Arg | |
| ENST00000591111.5:c.100035T>G (TTN) | ENSP00000465570.1:p.Ser33345Arg | |
| ENST00000615779.4:c.100035T>G (TTN) | ENSP00000483597.1:p.Ser33345Arg | |
| NM_001256850.1:c.100035T>G (TTN) | NP_001243779.1:p.Ser33345Arg | |
| NM_001267550.2:c.104958T>G (TTN) MANE Select | NP_001254479.2:p.Ser34986Arg | |
| NM_003319.4:c.77763T>G (TTN) | NP_003310.4:p.Ser25921Arg | |
| NM_133378.4:c.97254T>G (TTN) | NP_596869.4:p.Ser32418Arg | |
| NM_133432.3:c.78138T>G (TTN) | NP_597676.3:p.Ser26046Arg | |
| NM_133437.4:c.78339T>G (TTN) | NP_597681.4:p.Ser26113Arg | |
| NR_038271.1:n.446+8021A>C (TTN-AS1) | ||
| NR_038272.1:n.220-4075A>C (TTN-AS1) | ||
| XM_011511729.1:c.104055T>G (TTN) | XP_011510031.1:p.Ser34685Arg | |
| XM_011511730.1:c.77949T>G (TTN) | XP_011510032.1:p.Ser25983Arg | |
| XM_011511731.1:c.77808T>G (TTN) | XP_011510033.1:p.Ser25936Arg | |
| XM_017004819.1:c.103851T>G (TTN) | XP_016860308.1:p.Ser34617Arg | |
| XM_017004820.1:c.99249T>G (TTN) | XP_016860309.1:p.Ser33083Arg | |
| XM_017004821.1:c.99246T>G (TTN) | XP_016860310.1:p.Ser33082Arg | |
| XM_017004822.1:c.96288T>G (TTN) | XP_016860311.1:p.Ser32096Arg | |
| XM_017004823.1:c.77904T>G (TTN) | XP_016860312.1:p.Ser25968Arg | |
| XM_024453094.1:c.99399T>G (TTN) | XP_024308862.1:p.Ser33133Arg | |
| XM_024453095.1:c.99396T>G (TTN) | XP_024308863.1:p.Ser33132Arg | |
| XM_024453096.1:c.98829T>G (TTN) | XP_024308864.1:p.Ser32943Arg | |
| XM_024453097.1:c.96171T>G (TTN) | XP_024308865.1:p.Ser32057Arg | |
| XM_024453098.1:c.96090T>G (TTN) | XP_024308866.1:p.Ser32030Arg | |
| XM_024453099.1:c.77853T>G (TTN) | XP_024308867.1:p.Ser25951Arg | |
| XM_024453100.1:c.67707T>G (TTN) | XP_024308868.1:p.Ser22569Arg |