Revel Score:
ENST00000342992
0.904
ENST00000460472
0.904
ENST00000342175
0.904
ENST00000359218
0.904
ENST00000356127
0.904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614638C>G , CM000664.2:g.178614638C>G | GRCh38 |
| NC_000002.11:g.179479365C>G , CM000664.1:g.179479365C>G | GRCh37 |
| NC_000002.10:g.179187610C>G | NCBI36 |
| NG_011618.3:g.221165G>C , LRG_391:g.221165G>C | |
| NG_051363.1:g.96812C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41172G>C (TTN) | ENSP00000343764.6:p.Trp13724Cys | |
| ENST00000342175.11:c.22257G>C (TTN) | ENSP00000340554.6:p.Trp7419Cys | |
| ENST00000359218.10:c.22056G>C (TTN) | ENSP00000352154.5:p.Trp7352Cys | |
| ENST00000342175.10:c.22257G>C (TTN) | ENSP00000340554.6:p.Trp7419Cys | |
| ENST00000342992.10:c.41172G>C (TTN) | ENSP00000343764.6:p.Trp13724Cys | |
| ENST00000359218.9:c.22056G>C (TTN) | ENSP00000352154.5:p.Trp7352Cys | |
| ENST00000460472.6:c.21681G>C (TTN) | ENSP00000434586.1:p.Trp7227Cys | |
| ENST00000589042.5:c.48876G>C (TTN) MANE Select | ENSP00000467141.1:p.Trp16292Cys | |
| ENST00000591111.5:c.43953G>C (TTN) | ENSP00000465570.1:p.Trp14651Cys | |
| ENST00000615779.4:c.43953G>C (TTN) | ENSP00000483597.1:p.Trp14651Cys | |
| NM_001256850.1:c.43953G>C (TTN) | NP_001243779.1:p.Trp14651Cys | |
| NM_001267550.2:c.48876G>C (TTN) MANE Select | NP_001254479.2:p.Trp16292Cys | |
| NM_003319.4:c.21681G>C (TTN) | NP_003310.4:p.Trp7227Cys | |
| NM_133378.4:c.41172G>C (TTN) | NP_596869.4:p.Trp13724Cys | |
| NM_133432.3:c.22056G>C (TTN) | NP_597676.3:p.Trp7352Cys | |
| NM_133437.4:c.22257G>C (TTN) | NP_597681.4:p.Trp7419Cys | |
| NR_038271.1:n.1386C>G (TTN-AS1) | ||
| XM_011511729.1:c.47973G>C (TTN) | XP_011510031.1:p.Trp15991Cys | |
| XM_011511730.1:c.21867G>C (TTN) | XP_011510032.1:p.Trp7289Cys | |
| XM_011511731.1:c.21726G>C (TTN) | XP_011510033.1:p.Trp7242Cys | |
| XM_017004819.1:c.47769G>C (TTN) | XP_016860308.1:p.Trp15923Cys | |
| XM_017004820.1:c.43167G>C (TTN) | XP_016860309.1:p.Trp14389Cys | |
| XM_017004821.1:c.43164G>C (TTN) | XP_016860310.1:p.Trp14388Cys | |
| XM_017004822.1:c.40206G>C (TTN) | XP_016860311.1:p.Trp13402Cys | |
| XM_017004823.1:c.21822G>C (TTN) | XP_016860312.1:p.Trp7274Cys | |
| XM_024453094.1:c.43317G>C (TTN) | XP_024308862.1:p.Trp14439Cys | |
| XM_024453095.1:c.43314G>C (TTN) | XP_024308863.1:p.Trp14438Cys | |
| XM_024453096.1:c.42747G>C (TTN) | XP_024308864.1:p.Trp14249Cys | |
| XM_024453097.1:c.40089G>C (TTN) | XP_024308865.1:p.Trp13363Cys | |
| XM_024453098.1:c.40008G>C (TTN) | XP_024308866.1:p.Trp13336Cys | |
| XM_024453099.1:c.21771G>C (TTN) | XP_024308867.1:p.Trp7257Cys | |
| XM_024453100.1:c.11625G>C (TTN) | XP_024308868.1:p.Trp3875Cys |