Revel Score:
ENST00000342992
0.042
ENST00000460472
0.042
ENST00000342175
0.042
ENST00000359218
0.042
ENST00000356127
0.042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531128G>T , CM000664.2:g.178531128G>T | GRCh38 |
| NC_000002.11:g.179395855G>T , CM000664.1:g.179395855G>T | GRCh37 |
| NC_000002.10:g.179104101G>T | NCBI36 |
| NG_011618.3:g.304675C>A , LRG_391:g.304675C>A | |
| NG_051363.1:g.13302G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97783C>A (TTN) | ENSP00000343764.6:p.Leu32595Met | |
| ENST00000342175.11:c.78868C>A (TTN) | ENSP00000340554.6:p.Leu26290Met | |
| ENST00000359218.10:c.78667C>A (TTN) | ENSP00000352154.5:p.Leu26223Met | |
| ENST00000342175.10:c.78868C>A (TTN) | ENSP00000340554.6:p.Leu26290Met | |
| ENST00000342992.10:c.97783C>A (TTN) | ENSP00000343764.6:p.Leu32595Met | |
| ENST00000359218.9:c.78667C>A (TTN) | ENSP00000352154.5:p.Leu26223Met | |
| ENST00000460472.6:c.78292C>A (TTN) | ENSP00000434586.1:p.Leu26098Met | |
| ENST00000589042.5:c.105487C>A (TTN) MANE Select | ENSP00000467141.1:p.Leu35163Met | |
| ENST00000591111.5:c.100564C>A (TTN) | ENSP00000465570.1:p.Leu33522Met | |
| ENST00000615779.4:c.100564C>A (TTN) | ENSP00000483597.1:p.Leu33522Met | |
| NM_001256850.1:c.100564C>A (TTN) | NP_001243779.1:p.Leu33522Met | |
| NM_001267550.2:c.105487C>A (TTN) MANE Select | NP_001254479.2:p.Leu35163Met | |
| NM_003319.4:c.78292C>A (TTN) | NP_003310.4:p.Leu26098Met | |
| NM_133378.4:c.97783C>A (TTN) | NP_596869.4:p.Leu32595Met | |
| NM_133432.3:c.78667C>A (TTN) | NP_597676.3:p.Leu26223Met | |
| NM_133437.4:c.78868C>A (TTN) | NP_597681.4:p.Leu26290Met | |
| NR_038271.1:n.446+7492G>T (TTN-AS1) | ||
| NR_038272.1:n.220-4604G>T (TTN-AS1) | ||
| XM_011511729.1:c.104584C>A (TTN) | XP_011510031.1:p.Leu34862Met | |
| XM_011511730.1:c.78478C>A (TTN) | XP_011510032.1:p.Leu26160Met | |
| XM_011511731.1:c.78337C>A (TTN) | XP_011510033.1:p.Leu26113Met | |
| XM_017004819.1:c.104380C>A (TTN) | XP_016860308.1:p.Leu34794Met | |
| XM_017004820.1:c.99778C>A (TTN) | XP_016860309.1:p.Leu33260Met | |
| XM_017004821.1:c.99775C>A (TTN) | XP_016860310.1:p.Leu33259Met | |
| XM_017004822.1:c.96817C>A (TTN) | XP_016860311.1:p.Leu32273Met | |
| XM_017004823.1:c.78433C>A (TTN) | XP_016860312.1:p.Leu26145Met | |
| XM_024453094.1:c.99928C>A (TTN) | XP_024308862.1:p.Leu33310Met | |
| XM_024453095.1:c.99925C>A (TTN) | XP_024308863.1:p.Leu33309Met | |
| XM_024453096.1:c.99358C>A (TTN) | XP_024308864.1:p.Leu33120Met | |
| XM_024453097.1:c.96700C>A (TTN) | XP_024308865.1:p.Leu32234Met | |
| XM_024453098.1:c.96619C>A (TTN) | XP_024308866.1:p.Leu32207Met | |
| XM_024453099.1:c.78382C>A (TTN) | XP_024308867.1:p.Leu26128Met | |
| XM_024453100.1:c.68236C>A (TTN) | XP_024308868.1:p.Leu22746Met |