Revel Score:
ENST00000342992
0.251
ENST00000460472
0.251
ENST00000342175
0.251
ENST00000359218
0.251
ENST00000356127
0.251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584569C>G , CM000664.2:g.178584569C>G | GRCh38 |
| NC_000002.11:g.179449296C>G , CM000664.1:g.179449296C>G | GRCh37 |
| NC_000002.10:g.179157542C>G | NCBI36 |
| NG_011618.3:g.251234G>C , LRG_391:g.251234G>C | |
| NG_051363.1:g.66743C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57278G>C (TTN) | ENSP00000343764.6:p.Ser19093Thr | |
| ENST00000342175.11:c.38363G>C (TTN) | ENSP00000340554.6:p.Ser12788Thr | |
| ENST00000359218.10:c.38162G>C (TTN) | ENSP00000352154.5:p.Ser12721Thr | |
| ENST00000342175.10:c.38363G>C (TTN) | ENSP00000340554.6:p.Ser12788Thr | |
| ENST00000342992.10:c.57278G>C (TTN) | ENSP00000343764.6:p.Ser19093Thr | |
| ENST00000359218.9:c.38162G>C (TTN) | ENSP00000352154.5:p.Ser12721Thr | |
| ENST00000460472.6:c.37787G>C (TTN) | ENSP00000434586.1:p.Ser12596Thr | |
| ENST00000589042.5:c.64982G>C (TTN) MANE Select | ENSP00000467141.1:p.Ser21661Thr | |
| ENST00000591111.5:c.60059G>C (TTN) | ENSP00000465570.1:p.Ser20020Thr | |
| ENST00000615779.4:c.60059G>C (TTN) | ENSP00000483597.1:p.Ser20020Thr | |
| NM_001256850.1:c.60059G>C (TTN) | NP_001243779.1:p.Ser20020Thr | |
| NM_001267550.2:c.64982G>C (TTN) MANE Select | NP_001254479.2:p.Ser21661Thr | |
| NM_003319.4:c.37787G>C (TTN) | NP_003310.4:p.Ser12596Thr | |
| NM_133378.4:c.57278G>C (TTN) | NP_596869.4:p.Ser19093Thr | |
| NM_133432.3:c.38162G>C (TTN) | NP_597676.3:p.Ser12721Thr | |
| NM_133437.4:c.38363G>C (TTN) | NP_597681.4:p.Ser12788Thr | |
| NR_038271.1:n.597-13027C>G (TTN-AS1) | ||
| NR_038272.1:n.2768-4C>G (TTN-AS1) | ||
| XM_011511729.1:c.64079G>C (TTN) | XP_011510031.1:p.Ser21360Thr | |
| XM_011511730.1:c.37973G>C (TTN) | XP_011510032.1:p.Ser12658Thr | |
| XM_011511731.1:c.37832G>C (TTN) | XP_011510033.1:p.Ser12611Thr | |
| XM_017004819.1:c.63875G>C (TTN) | XP_016860308.1:p.Ser21292Thr | |
| XM_017004820.1:c.59273G>C (TTN) | XP_016860309.1:p.Ser19758Thr | |
| XM_017004821.1:c.59270G>C (TTN) | XP_016860310.1:p.Ser19757Thr | |
| XM_017004822.1:c.56312G>C (TTN) | XP_016860311.1:p.Ser18771Thr | |
| XM_017004823.1:c.37928G>C (TTN) | XP_016860312.1:p.Ser12643Thr | |
| XM_024453094.1:c.59423G>C (TTN) | XP_024308862.1:p.Ser19808Thr | |
| XM_024453095.1:c.59420G>C (TTN) | XP_024308863.1:p.Ser19807Thr | |
| XM_024453096.1:c.58853G>C (TTN) | XP_024308864.1:p.Ser19618Thr | |
| XM_024453097.1:c.56195G>C (TTN) | XP_024308865.1:p.Ser18732Thr | |
| XM_024453098.1:c.56114G>C (TTN) | XP_024308866.1:p.Ser18705Thr | |
| XM_024453099.1:c.37877G>C (TTN) | XP_024308867.1:p.Ser12626Thr | |
| XM_024453100.1:c.27731G>C (TTN) | XP_024308868.1:p.Ser9244Thr |