Revel Score:
ENST00000342992
0.141
ENST00000460472
0.141
ENST00000342175
0.141
ENST00000359218
0.141
ENST00000356127
0.141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583210G>C , CM000664.2:g.178583210G>C | GRCh38 |
| NC_000002.11:g.179447937G>C , CM000664.1:g.179447937G>C | GRCh37 |
| NC_000002.10:g.179156183G>C | NCBI36 |
| NG_011618.3:g.252593C>G , LRG_391:g.252593C>G | |
| NG_051363.1:g.65384G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57889C>G (TTN) | ENSP00000343764.6:p.Leu19297Val | |
| ENST00000342175.11:c.38974C>G (TTN) | ENSP00000340554.6:p.Leu12992Val | |
| ENST00000359218.10:c.38773C>G (TTN) | ENSP00000352154.5:p.Leu12925Val | |
| ENST00000342175.10:c.38974C>G (TTN) | ENSP00000340554.6:p.Leu12992Val | |
| ENST00000342992.10:c.57889C>G (TTN) | ENSP00000343764.6:p.Leu19297Val | |
| ENST00000359218.9:c.38773C>G (TTN) | ENSP00000352154.5:p.Leu12925Val | |
| ENST00000460472.6:c.38398C>G (TTN) | ENSP00000434586.1:p.Leu12800Val | |
| ENST00000589042.5:c.65593C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu21865Val | |
| ENST00000591111.5:c.60670C>G (TTN) | ENSP00000465570.1:p.Leu20224Val | |
| ENST00000615779.4:c.60670C>G (TTN) | ENSP00000483597.1:p.Leu20224Val | |
| NM_001256850.1:c.60670C>G (TTN) | NP_001243779.1:p.Leu20224Val | |
| NM_001267550.2:c.65593C>G (TTN) MANE Select | NP_001254479.2:p.Leu21865Val | |
| NM_003319.4:c.38398C>G (TTN) | NP_003310.4:p.Leu12800Val | |
| NM_133378.4:c.57889C>G (TTN) | NP_596869.4:p.Leu19297Val | |
| NM_133432.3:c.38773C>G (TTN) | NP_597676.3:p.Leu12925Val | |
| NM_133437.4:c.38974C>G (TTN) | NP_597681.4:p.Leu12992Val | |
| NR_038271.1:n.596+11761G>C (TTN-AS1) | ||
| NR_038272.1:n.2369+29G>C (TTN-AS1) | ||
| XM_011511729.1:c.64690C>G (TTN) | XP_011510031.1:p.Leu21564Val | |
| XM_011511730.1:c.38584C>G (TTN) | XP_011510032.1:p.Leu12862Val | |
| XM_011511731.1:c.38443C>G (TTN) | XP_011510033.1:p.Leu12815Val | |
| XM_017004819.1:c.64486C>G (TTN) | XP_016860308.1:p.Leu21496Val | |
| XM_017004820.1:c.59884C>G (TTN) | XP_016860309.1:p.Leu19962Val | |
| XM_017004821.1:c.59881C>G (TTN) | XP_016860310.1:p.Leu19961Val | |
| XM_017004822.1:c.56923C>G (TTN) | XP_016860311.1:p.Leu18975Val | |
| XM_017004823.1:c.38539C>G (TTN) | XP_016860312.1:p.Leu12847Val | |
| XM_024453094.1:c.60034C>G (TTN) | XP_024308862.1:p.Leu20012Val | |
| XM_024453095.1:c.60031C>G (TTN) | XP_024308863.1:p.Leu20011Val | |
| XM_024453096.1:c.59464C>G (TTN) | XP_024308864.1:p.Leu19822Val | |
| XM_024453097.1:c.56806C>G (TTN) | XP_024308865.1:p.Leu18936Val | |
| XM_024453098.1:c.56725C>G (TTN) | XP_024308866.1:p.Leu18909Val | |
| XM_024453099.1:c.38488C>G (TTN) | XP_024308867.1:p.Leu12830Val | |
| XM_024453100.1:c.28342C>G (TTN) | XP_024308868.1:p.Leu9448Val |