Revel Score:
ENST00000342992
0.543
ENST00000460472
0.543
ENST00000342175
0.543
ENST00000359218
0.543
ENST00000356127
0.543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614535C>T , CM000664.2:g.178614535C>T | GRCh38 |
| NC_000002.11:g.179479262C>T , CM000664.1:g.179479262C>T | GRCh37 |
| NC_000002.10:g.179187507C>T | NCBI36 |
| NG_011618.3:g.221268G>A , LRG_391:g.221268G>A | |
| NG_051363.1:g.96709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41275G>A (TTN) | ENSP00000343764.6:p.Gly13759Ser | |
| ENST00000342175.11:c.22360G>A (TTN) | ENSP00000340554.6:p.Gly7454Ser | |
| ENST00000359218.10:c.22159G>A (TTN) | ENSP00000352154.5:p.Gly7387Ser | |
| ENST00000342175.10:c.22360G>A (TTN) | ENSP00000340554.6:p.Gly7454Ser | |
| ENST00000342992.10:c.41275G>A (TTN) | ENSP00000343764.6:p.Gly13759Ser | |
| ENST00000359218.9:c.22159G>A (TTN) | ENSP00000352154.5:p.Gly7387Ser | |
| ENST00000460472.6:c.21784G>A (TTN) | ENSP00000434586.1:p.Gly7262Ser | |
| ENST00000589042.5:c.48979G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly16327Ser | |
| ENST00000591111.5:c.44056G>A (TTN) | ENSP00000465570.1:p.Gly14686Ser | |
| ENST00000615779.4:c.44056G>A (TTN) | ENSP00000483597.1:p.Gly14686Ser | |
| NM_001256850.1:c.44056G>A (TTN) | NP_001243779.1:p.Gly14686Ser | |
| NM_001267550.2:c.48979G>A (TTN) MANE Select | NP_001254479.2:p.Gly16327Ser | |
| NM_003319.4:c.21784G>A (TTN) | NP_003310.4:p.Gly7262Ser | |
| NM_133378.4:c.41275G>A (TTN) | NP_596869.4:p.Gly13759Ser | |
| NM_133432.3:c.22159G>A (TTN) | NP_597676.3:p.Gly7387Ser | |
| NM_133437.4:c.22360G>A (TTN) | NP_597681.4:p.Gly7454Ser | |
| NR_038271.1:n.1283C>T (TTN-AS1) | ||
| XM_011511729.1:c.48076G>A (TTN) | XP_011510031.1:p.Gly16026Ser | |
| XM_011511730.1:c.21970G>A (TTN) | XP_011510032.1:p.Gly7324Ser | |
| XM_011511731.1:c.21829G>A (TTN) | XP_011510033.1:p.Gly7277Ser | |
| XM_017004819.1:c.47872G>A (TTN) | XP_016860308.1:p.Gly15958Ser | |
| XM_017004820.1:c.43270G>A (TTN) | XP_016860309.1:p.Gly14424Ser | |
| XM_017004821.1:c.43267G>A (TTN) | XP_016860310.1:p.Gly14423Ser | |
| XM_017004822.1:c.40309G>A (TTN) | XP_016860311.1:p.Gly13437Ser | |
| XM_017004823.1:c.21925G>A (TTN) | XP_016860312.1:p.Gly7309Ser | |
| XM_024453094.1:c.43420G>A (TTN) | XP_024308862.1:p.Gly14474Ser | |
| XM_024453095.1:c.43417G>A (TTN) | XP_024308863.1:p.Gly14473Ser | |
| XM_024453096.1:c.42850G>A (TTN) | XP_024308864.1:p.Gly14284Ser | |
| XM_024453097.1:c.40192G>A (TTN) | XP_024308865.1:p.Gly13398Ser | |
| XM_024453098.1:c.40111G>A (TTN) | XP_024308866.1:p.Gly13371Ser | |
| XM_024453099.1:c.21874G>A (TTN) | XP_024308867.1:p.Gly7292Ser | |
| XM_024453100.1:c.11728G>A (TTN) | XP_024308868.1:p.Gly3910Ser |