Revel Score:
ENST00000342992
0.372
ENST00000460472
0.372
ENST00000342175
0.372
ENST00000359218
0.372
ENST00000356127
0.372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614632C>A , CM000664.2:g.178614632C>A | GRCh38 |
| NC_000002.11:g.179479359C>A , CM000664.1:g.179479359C>A | GRCh37 |
| NC_000002.10:g.179187604C>A | NCBI36 |
| NG_011618.3:g.221171G>T , LRG_391:g.221171G>T | |
| NG_051363.1:g.96806C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41178G>T (TTN) | ENSP00000343764.6:p.Lys13726Asn | |
| ENST00000342175.11:c.22263G>T (TTN) | ENSP00000340554.6:p.Lys7421Asn | |
| ENST00000359218.10:c.22062G>T (TTN) | ENSP00000352154.5:p.Lys7354Asn | |
| ENST00000342175.10:c.22263G>T (TTN) | ENSP00000340554.6:p.Lys7421Asn | |
| ENST00000342992.10:c.41178G>T (TTN) | ENSP00000343764.6:p.Lys13726Asn | |
| ENST00000359218.9:c.22062G>T (TTN) | ENSP00000352154.5:p.Lys7354Asn | |
| ENST00000460472.6:c.21687G>T (TTN) | ENSP00000434586.1:p.Lys7229Asn | |
| ENST00000589042.5:c.48882G>T (TTN) MANE Select | ENSP00000467141.1:p.Lys16294Asn | |
| ENST00000591111.5:c.43959G>T (TTN) | ENSP00000465570.1:p.Lys14653Asn | |
| ENST00000615779.4:c.43959G>T (TTN) | ENSP00000483597.1:p.Lys14653Asn | |
| NM_001256850.1:c.43959G>T (TTN) | NP_001243779.1:p.Lys14653Asn | |
| NM_001267550.2:c.48882G>T (TTN) MANE Select | NP_001254479.2:p.Lys16294Asn | |
| NM_003319.4:c.21687G>T (TTN) | NP_003310.4:p.Lys7229Asn | |
| NM_133378.4:c.41178G>T (TTN) | NP_596869.4:p.Lys13726Asn | |
| NM_133432.3:c.22062G>T (TTN) | NP_597676.3:p.Lys7354Asn | |
| NM_133437.4:c.22263G>T (TTN) | NP_597681.4:p.Lys7421Asn | |
| NR_038271.1:n.1380C>A (TTN-AS1) | ||
| XM_011511729.1:c.47979G>T (TTN) | XP_011510031.1:p.Lys15993Asn | |
| XM_011511730.1:c.21873G>T (TTN) | XP_011510032.1:p.Lys7291Asn | |
| XM_011511731.1:c.21732G>T (TTN) | XP_011510033.1:p.Lys7244Asn | |
| XM_017004819.1:c.47775G>T (TTN) | XP_016860308.1:p.Lys15925Asn | |
| XM_017004820.1:c.43173G>T (TTN) | XP_016860309.1:p.Lys14391Asn | |
| XM_017004821.1:c.43170G>T (TTN) | XP_016860310.1:p.Lys14390Asn | |
| XM_017004822.1:c.40212G>T (TTN) | XP_016860311.1:p.Lys13404Asn | |
| XM_017004823.1:c.21828G>T (TTN) | XP_016860312.1:p.Lys7276Asn | |
| XM_024453094.1:c.43323G>T (TTN) | XP_024308862.1:p.Lys14441Asn | |
| XM_024453095.1:c.43320G>T (TTN) | XP_024308863.1:p.Lys14440Asn | |
| XM_024453096.1:c.42753G>T (TTN) | XP_024308864.1:p.Lys14251Asn | |
| XM_024453097.1:c.40095G>T (TTN) | XP_024308865.1:p.Lys13365Asn | |
| XM_024453098.1:c.40014G>T (TTN) | XP_024308866.1:p.Lys13338Asn | |
| XM_024453099.1:c.21777G>T (TTN) | XP_024308867.1:p.Lys7259Asn | |
| XM_024453100.1:c.11631G>T (TTN) | XP_024308868.1:p.Lys3877Asn |