Revel Score:
ENST00000342992
0.370
ENST00000460472
0.370
ENST00000342175
0.370
ENST00000359218
0.370
ENST00000356127
0.370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586706C>G , CM000664.2:g.178586706C>G | GRCh38 |
| NC_000002.11:g.179451433C>G , CM000664.1:g.179451433C>G | GRCh37 |
| NC_000002.10:g.179159679C>G | NCBI36 |
| NG_011618.3:g.249097G>C , LRG_391:g.249097G>C | |
| NG_051363.1:g.68880C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56491G>C (TTN) | ENSP00000343764.6:p.Asp18831His | |
| ENST00000342175.11:c.37576G>C (TTN) | ENSP00000340554.6:p.Asp12526His | |
| ENST00000359218.10:c.37375G>C (TTN) | ENSP00000352154.5:p.Asp12459His | |
| ENST00000342175.10:c.37576G>C (TTN) | ENSP00000340554.6:p.Asp12526His | |
| ENST00000342992.10:c.56491G>C (TTN) | ENSP00000343764.6:p.Asp18831His | |
| ENST00000359218.9:c.37375G>C (TTN) | ENSP00000352154.5:p.Asp12459His | |
| ENST00000460472.6:c.37000G>C (TTN) | ENSP00000434586.1:p.Asp12334His | |
| ENST00000589042.5:c.64195G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp21399His | |
| ENST00000591111.5:c.59272G>C (TTN) | ENSP00000465570.1:p.Asp19758His | |
| ENST00000615779.4:c.59272G>C (TTN) | ENSP00000483597.1:p.Asp19758His | |
| NM_001256850.1:c.59272G>C (TTN) | NP_001243779.1:p.Asp19758His | |
| NM_001267550.2:c.64195G>C (TTN) MANE Select | NP_001254479.2:p.Asp21399His | |
| NM_003319.4:c.37000G>C (TTN) | NP_003310.4:p.Asp12334His | |
| NM_133378.4:c.56491G>C (TTN) | NP_596869.4:p.Asp18831His | |
| NM_133432.3:c.37375G>C (TTN) | NP_597676.3:p.Asp12459His | |
| NM_133437.4:c.37576G>C (TTN) | NP_597681.4:p.Asp12526His | |
| NR_038271.1:n.597-10890C>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1713C>G (TTN-AS1) | ||
| XM_011511729.1:c.63292G>C (TTN) | XP_011510031.1:p.Asp21098His | |
| XM_011511730.1:c.37186G>C (TTN) | XP_011510032.1:p.Asp12396His | |
| XM_011511731.1:c.37045G>C (TTN) | XP_011510033.1:p.Asp12349His | |
| XM_017004819.1:c.63088G>C (TTN) | XP_016860308.1:p.Asp21030His | |
| XM_017004820.1:c.58486G>C (TTN) | XP_016860309.1:p.Asp19496His | |
| XM_017004821.1:c.58483G>C (TTN) | XP_016860310.1:p.Asp19495His | |
| XM_017004822.1:c.55525G>C (TTN) | XP_016860311.1:p.Asp18509His | |
| XM_017004823.1:c.37141G>C (TTN) | XP_016860312.1:p.Asp12381His | |
| XM_024453094.1:c.58636G>C (TTN) | XP_024308862.1:p.Asp19546His | |
| XM_024453095.1:c.58633G>C (TTN) | XP_024308863.1:p.Asp19545His | |
| XM_024453096.1:c.58066G>C (TTN) | XP_024308864.1:p.Asp19356His | |
| XM_024453097.1:c.55408G>C (TTN) | XP_024308865.1:p.Asp18470His | |
| XM_024453098.1:c.55327G>C (TTN) | XP_024308866.1:p.Asp18443His | |
| XM_024453099.1:c.37090G>C (TTN) | XP_024308867.1:p.Asp12364His | |
| XM_024453100.1:c.26944G>C (TTN) | XP_024308868.1:p.Asp8982His |