Revel Score:
ENST00000342992
0.447
ENST00000460472
0.447
ENST00000342175
0.447
ENST00000359218
0.447
ENST00000356127
0.447
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586612C>G , CM000664.2:g.178586612C>G | GRCh38 |
| NC_000002.11:g.179451339C>G , CM000664.1:g.179451339C>G | GRCh37 |
| NC_000002.10:g.179159585C>G | NCBI36 |
| NG_011618.3:g.249191G>C , LRG_391:g.249191G>C | |
| NG_051363.1:g.68786C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56585G>C (TTN) | ENSP00000343764.6:p.Gly18862Ala | |
| ENST00000342175.11:c.37670G>C (TTN) | ENSP00000340554.6:p.Gly12557Ala | |
| ENST00000359218.10:c.37469G>C (TTN) | ENSP00000352154.5:p.Gly12490Ala | |
| ENST00000342175.10:c.37670G>C (TTN) | ENSP00000340554.6:p.Gly12557Ala | |
| ENST00000342992.10:c.56585G>C (TTN) | ENSP00000343764.6:p.Gly18862Ala | |
| ENST00000359218.9:c.37469G>C (TTN) | ENSP00000352154.5:p.Gly12490Ala | |
| ENST00000460472.6:c.37094G>C (TTN) | ENSP00000434586.1:p.Gly12365Ala | |
| ENST00000589042.5:c.64289G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly21430Ala | |
| ENST00000591111.5:c.59366G>C (TTN) | ENSP00000465570.1:p.Gly19789Ala | |
| ENST00000615779.4:c.59366G>C (TTN) | ENSP00000483597.1:p.Gly19789Ala | |
| NM_001256850.1:c.59366G>C (TTN) | NP_001243779.1:p.Gly19789Ala | |
| NM_001267550.2:c.64289G>C (TTN) MANE Select | NP_001254479.2:p.Gly21430Ala | |
| NM_003319.4:c.37094G>C (TTN) | NP_003310.4:p.Gly12365Ala | |
| NM_133378.4:c.56585G>C (TTN) | NP_596869.4:p.Gly18862Ala | |
| NM_133432.3:c.37469G>C (TTN) | NP_597676.3:p.Gly12490Ala | |
| NM_133437.4:c.37670G>C (TTN) | NP_597681.4:p.Gly12557Ala | |
| NR_038271.1:n.597-10984C>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1619C>G (TTN-AS1) | ||
| XM_011511729.1:c.63386G>C (TTN) | XP_011510031.1:p.Gly21129Ala | |
| XM_011511730.1:c.37280G>C (TTN) | XP_011510032.1:p.Gly12427Ala | |
| XM_011511731.1:c.37139G>C (TTN) | XP_011510033.1:p.Gly12380Ala | |
| XM_017004819.1:c.63182G>C (TTN) | XP_016860308.1:p.Gly21061Ala | |
| XM_017004820.1:c.58580G>C (TTN) | XP_016860309.1:p.Gly19527Ala | |
| XM_017004821.1:c.58577G>C (TTN) | XP_016860310.1:p.Gly19526Ala | |
| XM_017004822.1:c.55619G>C (TTN) | XP_016860311.1:p.Gly18540Ala | |
| XM_017004823.1:c.37235G>C (TTN) | XP_016860312.1:p.Gly12412Ala | |
| XM_024453094.1:c.58730G>C (TTN) | XP_024308862.1:p.Gly19577Ala | |
| XM_024453095.1:c.58727G>C (TTN) | XP_024308863.1:p.Gly19576Ala | |
| XM_024453096.1:c.58160G>C (TTN) | XP_024308864.1:p.Gly19387Ala | |
| XM_024453097.1:c.55502G>C (TTN) | XP_024308865.1:p.Gly18501Ala | |
| XM_024453098.1:c.55421G>C (TTN) | XP_024308866.1:p.Gly18474Ala | |
| XM_024453099.1:c.37184G>C (TTN) | XP_024308867.1:p.Gly12395Ala | |
| XM_024453100.1:c.27038G>C (TTN) | XP_024308868.1:p.Gly9013Ala |