Revel Score:
ENST00000342992
0.489
ENST00000460472
0.489
ENST00000342175
0.489
ENST00000359218
0.489
ENST00000356127
0.489
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614562T>G , CM000664.2:g.178614562T>G | GRCh38 |
| NC_000002.11:g.179479289T>G , CM000664.1:g.179479289T>G | GRCh37 |
| NC_000002.10:g.179187534T>G | NCBI36 |
| NG_011618.3:g.221241A>C , LRG_391:g.221241A>C | |
| NG_051363.1:g.96736T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41248A>C (TTN) | ENSP00000343764.6:p.Ile13750Leu | |
| ENST00000342175.11:c.22333A>C (TTN) | ENSP00000340554.6:p.Ile7445Leu | |
| ENST00000359218.10:c.22132A>C (TTN) | ENSP00000352154.5:p.Ile7378Leu | |
| ENST00000342175.10:c.22333A>C (TTN) | ENSP00000340554.6:p.Ile7445Leu | |
| ENST00000342992.10:c.41248A>C (TTN) | ENSP00000343764.6:p.Ile13750Leu | |
| ENST00000359218.9:c.22132A>C (TTN) | ENSP00000352154.5:p.Ile7378Leu | |
| ENST00000460472.6:c.21757A>C (TTN) | ENSP00000434586.1:p.Ile7253Leu | |
| ENST00000589042.5:c.48952A>C (TTN) MANE Select | ENSP00000467141.1:p.Ile16318Leu | |
| ENST00000591111.5:c.44029A>C (TTN) | ENSP00000465570.1:p.Ile14677Leu | |
| ENST00000615779.4:c.44029A>C (TTN) | ENSP00000483597.1:p.Ile14677Leu | |
| NM_001256850.1:c.44029A>C (TTN) | NP_001243779.1:p.Ile14677Leu | |
| NM_001267550.2:c.48952A>C (TTN) MANE Select | NP_001254479.2:p.Ile16318Leu | |
| NM_003319.4:c.21757A>C (TTN) | NP_003310.4:p.Ile7253Leu | |
| NM_133378.4:c.41248A>C (TTN) | NP_596869.4:p.Ile13750Leu | |
| NM_133432.3:c.22132A>C (TTN) | NP_597676.3:p.Ile7378Leu | |
| NM_133437.4:c.22333A>C (TTN) | NP_597681.4:p.Ile7445Leu | |
| NR_038271.1:n.1310T>G (TTN-AS1) | ||
| XM_011511729.1:c.48049A>C (TTN) | XP_011510031.1:p.Ile16017Leu | |
| XM_011511730.1:c.21943A>C (TTN) | XP_011510032.1:p.Ile7315Leu | |
| XM_011511731.1:c.21802A>C (TTN) | XP_011510033.1:p.Ile7268Leu | |
| XM_017004819.1:c.47845A>C (TTN) | XP_016860308.1:p.Ile15949Leu | |
| XM_017004820.1:c.43243A>C (TTN) | XP_016860309.1:p.Ile14415Leu | |
| XM_017004821.1:c.43240A>C (TTN) | XP_016860310.1:p.Ile14414Leu | |
| XM_017004822.1:c.40282A>C (TTN) | XP_016860311.1:p.Ile13428Leu | |
| XM_017004823.1:c.21898A>C (TTN) | XP_016860312.1:p.Ile7300Leu | |
| XM_024453094.1:c.43393A>C (TTN) | XP_024308862.1:p.Ile14465Leu | |
| XM_024453095.1:c.43390A>C (TTN) | XP_024308863.1:p.Ile14464Leu | |
| XM_024453096.1:c.42823A>C (TTN) | XP_024308864.1:p.Ile14275Leu | |
| XM_024453097.1:c.40165A>C (TTN) | XP_024308865.1:p.Ile13389Leu | |
| XM_024453098.1:c.40084A>C (TTN) | XP_024308866.1:p.Ile13362Leu | |
| XM_024453099.1:c.21847A>C (TTN) | XP_024308867.1:p.Ile7283Leu | |
| XM_024453100.1:c.11701A>C (TTN) | XP_024308868.1:p.Ile3901Leu |