Revel Score:
ENST00000342992
0.166
ENST00000460472
0.166
ENST00000342175
0.166
ENST00000359218
0.166
ENST00000356127
0.166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614637T>A , CM000664.2:g.178614637T>A | GRCh38 |
| NC_000002.11:g.179479364T>A , CM000664.1:g.179479364T>A | GRCh37 |
| NC_000002.10:g.179187609T>A | NCBI36 |
| NG_011618.3:g.221166A>T , LRG_391:g.221166A>T | |
| NG_051363.1:g.96811T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41173A>T (TTN) | ENSP00000343764.6:p.Thr13725Ser | |
| ENST00000342175.11:c.22258A>T (TTN) | ENSP00000340554.6:p.Thr7420Ser | |
| ENST00000359218.10:c.22057A>T (TTN) | ENSP00000352154.5:p.Thr7353Ser | |
| ENST00000342175.10:c.22258A>T (TTN) | ENSP00000340554.6:p.Thr7420Ser | |
| ENST00000342992.10:c.41173A>T (TTN) | ENSP00000343764.6:p.Thr13725Ser | |
| ENST00000359218.9:c.22057A>T (TTN) | ENSP00000352154.5:p.Thr7353Ser | |
| ENST00000460472.6:c.21682A>T (TTN) | ENSP00000434586.1:p.Thr7228Ser | |
| ENST00000589042.5:c.48877A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16293Ser | |
| ENST00000591111.5:c.43954A>T (TTN) | ENSP00000465570.1:p.Thr14652Ser | |
| ENST00000615779.4:c.43954A>T (TTN) | ENSP00000483597.1:p.Thr14652Ser | |
| NM_001256850.1:c.43954A>T (TTN) | NP_001243779.1:p.Thr14652Ser | |
| NM_001267550.2:c.48877A>T (TTN) MANE Select | NP_001254479.2:p.Thr16293Ser | |
| NM_003319.4:c.21682A>T (TTN) | NP_003310.4:p.Thr7228Ser | |
| NM_133378.4:c.41173A>T (TTN) | NP_596869.4:p.Thr13725Ser | |
| NM_133432.3:c.22057A>T (TTN) | NP_597676.3:p.Thr7353Ser | |
| NM_133437.4:c.22258A>T (TTN) | NP_597681.4:p.Thr7420Ser | |
| NR_038271.1:n.1385T>A (TTN-AS1) | ||
| XM_011511729.1:c.47974A>T (TTN) | XP_011510031.1:p.Thr15992Ser | |
| XM_011511730.1:c.21868A>T (TTN) | XP_011510032.1:p.Thr7290Ser | |
| XM_011511731.1:c.21727A>T (TTN) | XP_011510033.1:p.Thr7243Ser | |
| XM_017004819.1:c.47770A>T (TTN) | XP_016860308.1:p.Thr15924Ser | |
| XM_017004820.1:c.43168A>T (TTN) | XP_016860309.1:p.Thr14390Ser | |
| XM_017004821.1:c.43165A>T (TTN) | XP_016860310.1:p.Thr14389Ser | |
| XM_017004822.1:c.40207A>T (TTN) | XP_016860311.1:p.Thr13403Ser | |
| XM_017004823.1:c.21823A>T (TTN) | XP_016860312.1:p.Thr7275Ser | |
| XM_024453094.1:c.43318A>T (TTN) | XP_024308862.1:p.Thr14440Ser | |
| XM_024453095.1:c.43315A>T (TTN) | XP_024308863.1:p.Thr14439Ser | |
| XM_024453096.1:c.42748A>T (TTN) | XP_024308864.1:p.Thr14250Ser | |
| XM_024453097.1:c.40090A>T (TTN) | XP_024308865.1:p.Thr13364Ser | |
| XM_024453098.1:c.40009A>T (TTN) | XP_024308866.1:p.Thr13337Ser | |
| XM_024453099.1:c.21772A>T (TTN) | XP_024308867.1:p.Thr7258Ser | |
| XM_024453100.1:c.11626A>T (TTN) | XP_024308868.1:p.Thr3876Ser |