Revel Score:
ENST00000342992
0.098
ENST00000460472
0.098
ENST00000342175
0.098
ENST00000359218
0.098
ENST00000356127
0.098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607489A>C , CM000664.2:g.178607489A>C | GRCh38 |
| NC_000002.11:g.179472216A>C , CM000664.1:g.179472216A>C | GRCh37 |
| NC_000002.10:g.179180461A>C | NCBI36 |
| NG_011618.3:g.228314T>G , LRG_391:g.228314T>G | |
| NG_051363.1:g.89663A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45495T>G (TTN) | ENSP00000343764.6:p.Asp15165Glu | |
| ENST00000342175.11:c.26580T>G (TTN) | ENSP00000340554.6:p.Asp8860Glu | |
| ENST00000359218.10:c.26379T>G (TTN) | ENSP00000352154.5:p.Asp8793Glu | |
| ENST00000342175.10:c.26580T>G (TTN) | ENSP00000340554.6:p.Asp8860Glu | |
| ENST00000342992.10:c.45495T>G (TTN) | ENSP00000343764.6:p.Asp15165Glu | |
| ENST00000359218.9:c.26379T>G (TTN) | ENSP00000352154.5:p.Asp8793Glu | |
| ENST00000460472.6:c.26004T>G (TTN) | ENSP00000434586.1:p.Asp8668Glu | |
| ENST00000589042.5:c.53199T>G (TTN) MANE Select | ENSP00000467141.1:p.Asp17733Glu | |
| ENST00000591111.5:c.48276T>G (TTN) | ENSP00000465570.1:p.Asp16092Glu | |
| ENST00000615779.4:c.48276T>G (TTN) | ENSP00000483597.1:p.Asp16092Glu | |
| NM_001256850.1:c.48276T>G (TTN) | NP_001243779.1:p.Asp16092Glu | |
| NM_001267550.2:c.53199T>G (TTN) MANE Select | NP_001254479.2:p.Asp17733Glu | |
| NM_003319.4:c.26004T>G (TTN) | NP_003310.4:p.Asp8668Glu | |
| NM_133378.4:c.45495T>G (TTN) | NP_596869.4:p.Asp15165Glu | |
| NM_133432.3:c.26379T>G (TTN) | NP_597676.3:p.Asp8793Glu | |
| NM_133437.4:c.26580T>G (TTN) | NP_597681.4:p.Asp8860Glu | |
| NR_038271.1:n.683-678A>C (TTN-AS1) | ||
| XM_011511729.1:c.52296T>G (TTN) | XP_011510031.1:p.Asp17432Glu | |
| XM_011511730.1:c.26190T>G (TTN) | XP_011510032.1:p.Asp8730Glu | |
| XM_011511731.1:c.26049T>G (TTN) | XP_011510033.1:p.Asp8683Glu | |
| XM_017004819.1:c.52092T>G (TTN) | XP_016860308.1:p.Asp17364Glu | |
| XM_017004820.1:c.47490T>G (TTN) | XP_016860309.1:p.Asp15830Glu | |
| XM_017004821.1:c.47487T>G (TTN) | XP_016860310.1:p.Asp15829Glu | |
| XM_017004822.1:c.44529T>G (TTN) | XP_016860311.1:p.Asp14843Glu | |
| XM_017004823.1:c.26145T>G (TTN) | XP_016860312.1:p.Asp8715Glu | |
| XM_024453094.1:c.47640T>G (TTN) | XP_024308862.1:p.Asp15880Glu | |
| XM_024453095.1:c.47637T>G (TTN) | XP_024308863.1:p.Asp15879Glu | |
| XM_024453096.1:c.47070T>G (TTN) | XP_024308864.1:p.Asp15690Glu | |
| XM_024453097.1:c.44412T>G (TTN) | XP_024308865.1:p.Asp14804Glu | |
| XM_024453098.1:c.44331T>G (TTN) | XP_024308866.1:p.Asp14777Glu | |
| XM_024453099.1:c.26094T>G (TTN) | XP_024308867.1:p.Asp8698Glu | |
| XM_024453100.1:c.15948T>G (TTN) | XP_024308868.1:p.Asp5316Glu |