Revel Score:
ENST00000342992
0.385
ENST00000460472
0.385
ENST00000342175
0.385
ENST00000359218
0.385
ENST00000356127
0.385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562091G>A , CM000664.2:g.178562091G>A | GRCh38 |
| NC_000002.11:g.179426818G>A , CM000664.1:g.179426818G>A | GRCh37 |
| NC_000002.10:g.179135064G>A | NCBI36 |
| NG_011618.3:g.273712C>T , LRG_391:g.273712C>T | |
| NG_051363.1:g.44265G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76337C>T (TTN) | ENSP00000343764.6:p.Ser25446Leu | |
| ENST00000342175.11:c.57422C>T (TTN) | ENSP00000340554.6:p.Ser19141Leu | |
| ENST00000359218.10:c.57221C>T (TTN) | ENSP00000352154.5:p.Ser19074Leu | |
| ENST00000342175.10:c.57422C>T (TTN) | ENSP00000340554.6:p.Ser19141Leu | |
| ENST00000342992.10:c.76337C>T (TTN) | ENSP00000343764.6:p.Ser25446Leu | |
| ENST00000359218.9:c.57221C>T (TTN) | ENSP00000352154.5:p.Ser19074Leu | |
| ENST00000460472.6:c.56846C>T (TTN) | ENSP00000434586.1:p.Ser18949Leu | |
| ENST00000589042.5:c.84041C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser28014Leu | |
| ENST00000591111.5:c.79118C>T (TTN) | ENSP00000465570.1:p.Ser26373Leu | |
| ENST00000615779.4:c.79118C>T (TTN) | ENSP00000483597.1:p.Ser26373Leu | |
| NM_001256850.1:c.79118C>T (TTN) | NP_001243779.1:p.Ser26373Leu | |
| NM_001267550.2:c.84041C>T (TTN) MANE Select | NP_001254479.2:p.Ser28014Leu | |
| NM_003319.4:c.56846C>T (TTN) | NP_003310.4:p.Ser18949Leu | |
| NM_133378.4:c.76337C>T (TTN) | NP_596869.4:p.Ser25446Leu | |
| NM_133432.3:c.57221C>T (TTN) | NP_597676.3:p.Ser19074Leu | |
| NM_133437.4:c.57422C>T (TTN) | NP_597681.4:p.Ser19141Leu | |
| NR_038271.1:n.447-9209G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+19730G>A (TTN-AS1) | ||
| XM_011511729.1:c.83138C>T (TTN) | XP_011510031.1:p.Ser27713Leu | |
| XM_011511730.1:c.57032C>T (TTN) | XP_011510032.1:p.Ser19011Leu | |
| XM_011511731.1:c.56891C>T (TTN) | XP_011510033.1:p.Ser18964Leu | |
| XM_017004819.1:c.82934C>T (TTN) | XP_016860308.1:p.Ser27645Leu | |
| XM_017004820.1:c.78332C>T (TTN) | XP_016860309.1:p.Ser26111Leu | |
| XM_017004821.1:c.78329C>T (TTN) | XP_016860310.1:p.Ser26110Leu | |
| XM_017004822.1:c.75371C>T (TTN) | XP_016860311.1:p.Ser25124Leu | |
| XM_017004823.1:c.56987C>T (TTN) | XP_016860312.1:p.Ser18996Leu | |
| XM_024453094.1:c.78482C>T (TTN) | XP_024308862.1:p.Ser26161Leu | |
| XM_024453095.1:c.78479C>T (TTN) | XP_024308863.1:p.Ser26160Leu | |
| XM_024453096.1:c.77912C>T (TTN) | XP_024308864.1:p.Ser25971Leu | |
| XM_024453097.1:c.75254C>T (TTN) | XP_024308865.1:p.Ser25085Leu | |
| XM_024453098.1:c.75173C>T (TTN) | XP_024308866.1:p.Ser25058Leu | |
| XM_024453099.1:c.56936C>T (TTN) | XP_024308867.1:p.Ser18979Leu | |
| XM_024453100.1:c.46790C>T (TTN) | XP_024308868.1:p.Ser15597Leu |