Revel Score:
ENST00000342992
0.358
ENST00000460472
0.358
ENST00000342175
0.358
ENST00000359218
0.358
ENST00000356127
0.358
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000876 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614562T>C , CM000664.2:g.178614562T>C | GRCh38 |
| NC_000002.11:g.179479289T>C , CM000664.1:g.179479289T>C | GRCh37 |
| NC_000002.10:g.179187534T>C | NCBI36 |
| NG_011618.3:g.221241A>G , LRG_391:g.221241A>G | |
| NG_051363.1:g.96736T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41248A>G (TTN) | ENSP00000343764.6:p.Ile13750Val | |
| ENST00000342175.11:c.22333A>G (TTN) | ENSP00000340554.6:p.Ile7445Val | |
| ENST00000359218.10:c.22132A>G (TTN) | ENSP00000352154.5:p.Ile7378Val | |
| ENST00000342175.10:c.22333A>G (TTN) | ENSP00000340554.6:p.Ile7445Val | |
| ENST00000342992.10:c.41248A>G (TTN) | ENSP00000343764.6:p.Ile13750Val | |
| ENST00000359218.9:c.22132A>G (TTN) | ENSP00000352154.5:p.Ile7378Val | |
| ENST00000460472.6:c.21757A>G (TTN) | ENSP00000434586.1:p.Ile7253Val | |
| ENST00000589042.5:c.48952A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile16318Val | |
| ENST00000591111.5:c.44029A>G (TTN) | ENSP00000465570.1:p.Ile14677Val | |
| ENST00000615779.4:c.44029A>G (TTN) | ENSP00000483597.1:p.Ile14677Val | |
| NM_001256850.1:c.44029A>G (TTN) | NP_001243779.1:p.Ile14677Val | |
| NM_001267550.2:c.48952A>G (TTN) MANE Select | NP_001254479.2:p.Ile16318Val | |
| NM_003319.4:c.21757A>G (TTN) | NP_003310.4:p.Ile7253Val | |
| NM_133378.4:c.41248A>G (TTN) | NP_596869.4:p.Ile13750Val | |
| NM_133432.3:c.22132A>G (TTN) | NP_597676.3:p.Ile7378Val | |
| NM_133437.4:c.22333A>G (TTN) | NP_597681.4:p.Ile7445Val | |
| NR_038271.1:n.1310T>C (TTN-AS1) | ||
| XM_011511729.1:c.48049A>G (TTN) | XP_011510031.1:p.Ile16017Val | |
| XM_011511730.1:c.21943A>G (TTN) | XP_011510032.1:p.Ile7315Val | |
| XM_011511731.1:c.21802A>G (TTN) | XP_011510033.1:p.Ile7268Val | |
| XM_017004819.1:c.47845A>G (TTN) | XP_016860308.1:p.Ile15949Val | |
| XM_017004820.1:c.43243A>G (TTN) | XP_016860309.1:p.Ile14415Val | |
| XM_017004821.1:c.43240A>G (TTN) | XP_016860310.1:p.Ile14414Val | |
| XM_017004822.1:c.40282A>G (TTN) | XP_016860311.1:p.Ile13428Val | |
| XM_017004823.1:c.21898A>G (TTN) | XP_016860312.1:p.Ile7300Val | |
| XM_024453094.1:c.43393A>G (TTN) | XP_024308862.1:p.Ile14465Val | |
| XM_024453095.1:c.43390A>G (TTN) | XP_024308863.1:p.Ile14464Val | |
| XM_024453096.1:c.42823A>G (TTN) | XP_024308864.1:p.Ile14275Val | |
| XM_024453097.1:c.40165A>G (TTN) | XP_024308865.1:p.Ile13389Val | |
| XM_024453098.1:c.40084A>G (TTN) | XP_024308866.1:p.Ile13362Val | |
| XM_024453099.1:c.21847A>G (TTN) | XP_024308867.1:p.Ile7283Val | |
| XM_024453100.1:c.11701A>G (TTN) | XP_024308868.1:p.Ile3901Val |