Revel Score:
ENST00000342992
0.323
ENST00000460472
0.323
ENST00000342175
0.323
ENST00000359218
0.323
ENST00000356127
0.323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586706C>A , CM000664.2:g.178586706C>A | GRCh38 |
| NC_000002.11:g.179451433C>A , CM000664.1:g.179451433C>A | GRCh37 |
| NC_000002.10:g.179159679C>A | NCBI36 |
| NG_011618.3:g.249097G>T , LRG_391:g.249097G>T | |
| NG_051363.1:g.68880C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56491G>T (TTN) | ENSP00000343764.6:p.Asp18831Tyr | |
| ENST00000342175.11:c.37576G>T (TTN) | ENSP00000340554.6:p.Asp12526Tyr | |
| ENST00000359218.10:c.37375G>T (TTN) | ENSP00000352154.5:p.Asp12459Tyr | |
| ENST00000342175.10:c.37576G>T (TTN) | ENSP00000340554.6:p.Asp12526Tyr | |
| ENST00000342992.10:c.56491G>T (TTN) | ENSP00000343764.6:p.Asp18831Tyr | |
| ENST00000359218.9:c.37375G>T (TTN) | ENSP00000352154.5:p.Asp12459Tyr | |
| ENST00000460472.6:c.37000G>T (TTN) | ENSP00000434586.1:p.Asp12334Tyr | |
| ENST00000589042.5:c.64195G>T (TTN) MANE Select | ENSP00000467141.1:p.Asp21399Tyr | |
| ENST00000591111.5:c.59272G>T (TTN) | ENSP00000465570.1:p.Asp19758Tyr | |
| ENST00000615779.4:c.59272G>T (TTN) | ENSP00000483597.1:p.Asp19758Tyr | |
| NM_001256850.1:c.59272G>T (TTN) | NP_001243779.1:p.Asp19758Tyr | |
| NM_001267550.2:c.64195G>T (TTN) MANE Select | NP_001254479.2:p.Asp21399Tyr | |
| NM_003319.4:c.37000G>T (TTN) | NP_003310.4:p.Asp12334Tyr | |
| NM_133378.4:c.56491G>T (TTN) | NP_596869.4:p.Asp18831Tyr | |
| NM_133432.3:c.37375G>T (TTN) | NP_597676.3:p.Asp12459Tyr | |
| NM_133437.4:c.37576G>T (TTN) | NP_597681.4:p.Asp12526Tyr | |
| NR_038271.1:n.597-10890C>A (TTN-AS1) | ||
| NR_038272.1:n.3188+1713C>A (TTN-AS1) | ||
| XM_011511729.1:c.63292G>T (TTN) | XP_011510031.1:p.Asp21098Tyr | |
| XM_011511730.1:c.37186G>T (TTN) | XP_011510032.1:p.Asp12396Tyr | |
| XM_011511731.1:c.37045G>T (TTN) | XP_011510033.1:p.Asp12349Tyr | |
| XM_017004819.1:c.63088G>T (TTN) | XP_016860308.1:p.Asp21030Tyr | |
| XM_017004820.1:c.58486G>T (TTN) | XP_016860309.1:p.Asp19496Tyr | |
| XM_017004821.1:c.58483G>T (TTN) | XP_016860310.1:p.Asp19495Tyr | |
| XM_017004822.1:c.55525G>T (TTN) | XP_016860311.1:p.Asp18509Tyr | |
| XM_017004823.1:c.37141G>T (TTN) | XP_016860312.1:p.Asp12381Tyr | |
| XM_024453094.1:c.58636G>T (TTN) | XP_024308862.1:p.Asp19546Tyr | |
| XM_024453095.1:c.58633G>T (TTN) | XP_024308863.1:p.Asp19545Tyr | |
| XM_024453096.1:c.58066G>T (TTN) | XP_024308864.1:p.Asp19356Tyr | |
| XM_024453097.1:c.55408G>T (TTN) | XP_024308865.1:p.Asp18470Tyr | |
| XM_024453098.1:c.55327G>T (TTN) | XP_024308866.1:p.Asp18443Tyr | |
| XM_024453099.1:c.37090G>T (TTN) | XP_024308867.1:p.Asp12364Tyr | |
| XM_024453100.1:c.26944G>T (TTN) | XP_024308868.1:p.Asp8982Tyr |