Revel Score:
ENST00000342992
0.086
ENST00000460472
0.086
ENST00000342175
0.086
ENST00000359218
0.086
ENST00000356127
0.086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614538T>A , CM000664.2:g.178614538T>A | GRCh38 |
| NC_000002.11:g.179479265T>A , CM000664.1:g.179479265T>A | GRCh37 |
| NC_000002.10:g.179187510T>A | NCBI36 |
| NG_011618.3:g.221265A>T , LRG_391:g.221265A>T | |
| NG_051363.1:g.96712T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41272A>T (TTN) | ENSP00000343764.6:p.Thr13758Ser | |
| ENST00000342175.11:c.22357A>T (TTN) | ENSP00000340554.6:p.Thr7453Ser | |
| ENST00000359218.10:c.22156A>T (TTN) | ENSP00000352154.5:p.Thr7386Ser | |
| ENST00000342175.10:c.22357A>T (TTN) | ENSP00000340554.6:p.Thr7453Ser | |
| ENST00000342992.10:c.41272A>T (TTN) | ENSP00000343764.6:p.Thr13758Ser | |
| ENST00000359218.9:c.22156A>T (TTN) | ENSP00000352154.5:p.Thr7386Ser | |
| ENST00000460472.6:c.21781A>T (TTN) | ENSP00000434586.1:p.Thr7261Ser | |
| ENST00000589042.5:c.48976A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16326Ser | |
| ENST00000591111.5:c.44053A>T (TTN) | ENSP00000465570.1:p.Thr14685Ser | |
| ENST00000615779.4:c.44053A>T (TTN) | ENSP00000483597.1:p.Thr14685Ser | |
| NM_001256850.1:c.44053A>T (TTN) | NP_001243779.1:p.Thr14685Ser | |
| NM_001267550.2:c.48976A>T (TTN) MANE Select | NP_001254479.2:p.Thr16326Ser | |
| NM_003319.4:c.21781A>T (TTN) | NP_003310.4:p.Thr7261Ser | |
| NM_133378.4:c.41272A>T (TTN) | NP_596869.4:p.Thr13758Ser | |
| NM_133432.3:c.22156A>T (TTN) | NP_597676.3:p.Thr7386Ser | |
| NM_133437.4:c.22357A>T (TTN) | NP_597681.4:p.Thr7453Ser | |
| NR_038271.1:n.1286T>A (TTN-AS1) | ||
| XM_011511729.1:c.48073A>T (TTN) | XP_011510031.1:p.Thr16025Ser | |
| XM_011511730.1:c.21967A>T (TTN) | XP_011510032.1:p.Thr7323Ser | |
| XM_011511731.1:c.21826A>T (TTN) | XP_011510033.1:p.Thr7276Ser | |
| XM_017004819.1:c.47869A>T (TTN) | XP_016860308.1:p.Thr15957Ser | |
| XM_017004820.1:c.43267A>T (TTN) | XP_016860309.1:p.Thr14423Ser | |
| XM_017004821.1:c.43264A>T (TTN) | XP_016860310.1:p.Thr14422Ser | |
| XM_017004822.1:c.40306A>T (TTN) | XP_016860311.1:p.Thr13436Ser | |
| XM_017004823.1:c.21922A>T (TTN) | XP_016860312.1:p.Thr7308Ser | |
| XM_024453094.1:c.43417A>T (TTN) | XP_024308862.1:p.Thr14473Ser | |
| XM_024453095.1:c.43414A>T (TTN) | XP_024308863.1:p.Thr14472Ser | |
| XM_024453096.1:c.42847A>T (TTN) | XP_024308864.1:p.Thr14283Ser | |
| XM_024453097.1:c.40189A>T (TTN) | XP_024308865.1:p.Thr13397Ser | |
| XM_024453098.1:c.40108A>T (TTN) | XP_024308866.1:p.Thr13370Ser | |
| XM_024453099.1:c.21871A>T (TTN) | XP_024308867.1:p.Thr7291Ser | |
| XM_024453100.1:c.11725A>T (TTN) | XP_024308868.1:p.Thr3909Ser |