Revel Score:
ENST00000342992
0.284
ENST00000460472
0.284
ENST00000342175
0.284
ENST00000359218
0.284
ENST00000356127
0.284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531943G>C , CM000664.2:g.178531943G>C | GRCh38 |
| NC_000002.11:g.179396670G>C , CM000664.1:g.179396670G>C | GRCh37 |
| NC_000002.10:g.179104916G>C | NCBI36 |
| NG_011618.3:g.303860C>G , LRG_391:g.303860C>G | |
| NG_051363.1:g.14117G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96968C>G (TTN) | ENSP00000343764.6:p.Ser32323Cys | |
| ENST00000342175.11:c.78053C>G (TTN) | ENSP00000340554.6:p.Ser26018Cys | |
| ENST00000359218.10:c.77852C>G (TTN) | ENSP00000352154.5:p.Ser25951Cys | |
| ENST00000342175.10:c.78053C>G (TTN) | ENSP00000340554.6:p.Ser26018Cys | |
| ENST00000342992.10:c.96968C>G (TTN) | ENSP00000343764.6:p.Ser32323Cys | |
| ENST00000359218.9:c.77852C>G (TTN) | ENSP00000352154.5:p.Ser25951Cys | |
| ENST00000460472.6:c.77477C>G (TTN) | ENSP00000434586.1:p.Ser25826Cys | |
| ENST00000589042.5:c.104672C>G (TTN) MANE Select | ENSP00000467141.1:p.Ser34891Cys | |
| ENST00000591111.5:c.99749C>G (TTN) | ENSP00000465570.1:p.Ser33250Cys | |
| ENST00000615779.4:c.99749C>G (TTN) | ENSP00000483597.1:p.Ser33250Cys | |
| NM_001256850.1:c.99749C>G (TTN) | NP_001243779.1:p.Ser33250Cys | |
| NM_001267550.2:c.104672C>G (TTN) MANE Select | NP_001254479.2:p.Ser34891Cys | |
| NM_003319.4:c.77477C>G (TTN) | NP_003310.4:p.Ser25826Cys | |
| NM_133378.4:c.96968C>G (TTN) | NP_596869.4:p.Ser32323Cys | |
| NM_133432.3:c.77852C>G (TTN) | NP_597676.3:p.Ser25951Cys | |
| NM_133437.4:c.78053C>G (TTN) | NP_597681.4:p.Ser26018Cys | |
| NR_038271.1:n.446+8307G>C (TTN-AS1) | ||
| NR_038272.1:n.220-3789G>C (TTN-AS1) | ||
| XM_011511729.1:c.103769C>G (TTN) | XP_011510031.1:p.Ser34590Cys | |
| XM_011511730.1:c.77663C>G (TTN) | XP_011510032.1:p.Ser25888Cys | |
| XM_011511731.1:c.77522C>G (TTN) | XP_011510033.1:p.Ser25841Cys | |
| XM_017004819.1:c.103565C>G (TTN) | XP_016860308.1:p.Ser34522Cys | |
| XM_017004820.1:c.98963C>G (TTN) | XP_016860309.1:p.Ser32988Cys | |
| XM_017004821.1:c.98960C>G (TTN) | XP_016860310.1:p.Ser32987Cys | |
| XM_017004822.1:c.96002C>G (TTN) | XP_016860311.1:p.Ser32001Cys | |
| XM_017004823.1:c.77618C>G (TTN) | XP_016860312.1:p.Ser25873Cys | |
| XM_024453094.1:c.99113C>G (TTN) | XP_024308862.1:p.Ser33038Cys | |
| XM_024453095.1:c.99110C>G (TTN) | XP_024308863.1:p.Ser33037Cys | |
| XM_024453096.1:c.98543C>G (TTN) | XP_024308864.1:p.Ser32848Cys | |
| XM_024453097.1:c.95885C>G (TTN) | XP_024308865.1:p.Ser31962Cys | |
| XM_024453098.1:c.95804C>G (TTN) | XP_024308866.1:p.Ser31935Cys | |
| XM_024453099.1:c.77567C>G (TTN) | XP_024308867.1:p.Ser25856Cys | |
| XM_024453100.1:c.67421C>G (TTN) | XP_024308868.1:p.Ser22474Cys |