Revel Score:
ENST00000342992
0.363
ENST00000460472
0.363
ENST00000342175
0.363
ENST00000359218
0.363
ENST00000356127
0.363
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614636G>C , CM000664.2:g.178614636G>C | GRCh38 |
| NC_000002.11:g.179479363G>C , CM000664.1:g.179479363G>C | GRCh37 |
| NC_000002.10:g.179187608G>C | NCBI36 |
| NG_011618.3:g.221167C>G , LRG_391:g.221167C>G | |
| NG_051363.1:g.96810G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41174C>G (TTN) | ENSP00000343764.6:p.Thr13725Arg | |
| ENST00000342175.11:c.22259C>G (TTN) | ENSP00000340554.6:p.Thr7420Arg | |
| ENST00000359218.10:c.22058C>G (TTN) | ENSP00000352154.5:p.Thr7353Arg | |
| ENST00000342175.10:c.22259C>G (TTN) | ENSP00000340554.6:p.Thr7420Arg | |
| ENST00000342992.10:c.41174C>G (TTN) | ENSP00000343764.6:p.Thr13725Arg | |
| ENST00000359218.9:c.22058C>G (TTN) | ENSP00000352154.5:p.Thr7353Arg | |
| ENST00000460472.6:c.21683C>G (TTN) | ENSP00000434586.1:p.Thr7228Arg | |
| ENST00000589042.5:c.48878C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr16293Arg | |
| ENST00000591111.5:c.43955C>G (TTN) | ENSP00000465570.1:p.Thr14652Arg | |
| ENST00000615779.4:c.43955C>G (TTN) | ENSP00000483597.1:p.Thr14652Arg | |
| NM_001256850.1:c.43955C>G (TTN) | NP_001243779.1:p.Thr14652Arg | |
| NM_001267550.2:c.48878C>G (TTN) MANE Select | NP_001254479.2:p.Thr16293Arg | |
| NM_003319.4:c.21683C>G (TTN) | NP_003310.4:p.Thr7228Arg | |
| NM_133378.4:c.41174C>G (TTN) | NP_596869.4:p.Thr13725Arg | |
| NM_133432.3:c.22058C>G (TTN) | NP_597676.3:p.Thr7353Arg | |
| NM_133437.4:c.22259C>G (TTN) | NP_597681.4:p.Thr7420Arg | |
| NR_038271.1:n.1384G>C (TTN-AS1) | ||
| XM_011511729.1:c.47975C>G (TTN) | XP_011510031.1:p.Thr15992Arg | |
| XM_011511730.1:c.21869C>G (TTN) | XP_011510032.1:p.Thr7290Arg | |
| XM_011511731.1:c.21728C>G (TTN) | XP_011510033.1:p.Thr7243Arg | |
| XM_017004819.1:c.47771C>G (TTN) | XP_016860308.1:p.Thr15924Arg | |
| XM_017004820.1:c.43169C>G (TTN) | XP_016860309.1:p.Thr14390Arg | |
| XM_017004821.1:c.43166C>G (TTN) | XP_016860310.1:p.Thr14389Arg | |
| XM_017004822.1:c.40208C>G (TTN) | XP_016860311.1:p.Thr13403Arg | |
| XM_017004823.1:c.21824C>G (TTN) | XP_016860312.1:p.Thr7275Arg | |
| XM_024453094.1:c.43319C>G (TTN) | XP_024308862.1:p.Thr14440Arg | |
| XM_024453095.1:c.43316C>G (TTN) | XP_024308863.1:p.Thr14439Arg | |
| XM_024453096.1:c.42749C>G (TTN) | XP_024308864.1:p.Thr14250Arg | |
| XM_024453097.1:c.40091C>G (TTN) | XP_024308865.1:p.Thr13364Arg | |
| XM_024453098.1:c.40010C>G (TTN) | XP_024308866.1:p.Thr13337Arg | |
| XM_024453099.1:c.21773C>G (TTN) | XP_024308867.1:p.Thr7258Arg | |
| XM_024453100.1:c.11627C>G (TTN) | XP_024308868.1:p.Thr3876Arg |