Revel Score:
ENST00000342992
0.479
ENST00000460472
0.479
ENST00000342175
0.479
ENST00000359218
0.479
ENST00000356127
0.479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614744T>C , CM000664.2:g.178614744T>C | GRCh38 |
| NC_000002.11:g.179479471T>C , CM000664.1:g.179479471T>C | GRCh37 |
| NC_000002.10:g.179187716T>C | NCBI36 |
| NG_011618.3:g.221059A>G , LRG_391:g.221059A>G | |
| NG_051363.1:g.96918T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41066A>G (TTN) | ENSP00000343764.6:p.Glu13689Gly | |
| ENST00000342175.11:c.22151A>G (TTN) | ENSP00000340554.6:p.Glu7384Gly | |
| ENST00000359218.10:c.21950A>G (TTN) | ENSP00000352154.5:p.Glu7317Gly | |
| ENST00000342175.10:c.22151A>G (TTN) | ENSP00000340554.6:p.Glu7384Gly | |
| ENST00000342992.10:c.41066A>G (TTN) | ENSP00000343764.6:p.Glu13689Gly | |
| ENST00000359218.9:c.21950A>G (TTN) | ENSP00000352154.5:p.Glu7317Gly | |
| ENST00000460472.6:c.21575A>G (TTN) | ENSP00000434586.1:p.Glu7192Gly | |
| ENST00000589042.5:c.48770A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu16257Gly | |
| ENST00000591111.5:c.43847A>G (TTN) | ENSP00000465570.1:p.Glu14616Gly | |
| ENST00000615779.4:c.43847A>G (TTN) | ENSP00000483597.1:p.Glu14616Gly | |
| NM_001256850.1:c.43847A>G (TTN) | NP_001243779.1:p.Glu14616Gly | |
| NM_001267550.2:c.48770A>G (TTN) MANE Select | NP_001254479.2:p.Glu16257Gly | |
| NM_003319.4:c.21575A>G (TTN) | NP_003310.4:p.Glu7192Gly | |
| NM_133378.4:c.41066A>G (TTN) | NP_596869.4:p.Glu13689Gly | |
| NM_133432.3:c.21950A>G (TTN) | NP_597676.3:p.Glu7317Gly | |
| NM_133437.4:c.22151A>G (TTN) | NP_597681.4:p.Glu7384Gly | |
| NR_038271.1:n.1492T>C (TTN-AS1) | ||
| XM_011511729.1:c.47867A>G (TTN) | XP_011510031.1:p.Glu15956Gly | |
| XM_011511730.1:c.21761A>G (TTN) | XP_011510032.1:p.Glu7254Gly | |
| XM_011511731.1:c.21620A>G (TTN) | XP_011510033.1:p.Glu7207Gly | |
| XM_017004819.1:c.47663A>G (TTN) | XP_016860308.1:p.Glu15888Gly | |
| XM_017004820.1:c.43061A>G (TTN) | XP_016860309.1:p.Glu14354Gly | |
| XM_017004821.1:c.43058A>G (TTN) | XP_016860310.1:p.Glu14353Gly | |
| XM_017004822.1:c.40100A>G (TTN) | XP_016860311.1:p.Glu13367Gly | |
| XM_017004823.1:c.21716A>G (TTN) | XP_016860312.1:p.Glu7239Gly | |
| XM_024453094.1:c.43211A>G (TTN) | XP_024308862.1:p.Glu14404Gly | |
| XM_024453095.1:c.43208A>G (TTN) | XP_024308863.1:p.Glu14403Gly | |
| XM_024453096.1:c.42641A>G (TTN) | XP_024308864.1:p.Glu14214Gly | |
| XM_024453097.1:c.39983A>G (TTN) | XP_024308865.1:p.Glu13328Gly | |
| XM_024453098.1:c.39902A>G (TTN) | XP_024308866.1:p.Glu13301Gly | |
| XM_024453099.1:c.21665A>G (TTN) | XP_024308867.1:p.Glu7222Gly | |
| XM_024453100.1:c.11519A>G (TTN) | XP_024308868.1:p.Glu3840Gly |