Revel Score:
ENST00000342992
0.052
ENST00000460472
0.052
ENST00000342175
0.052
ENST00000359218
0.052
ENST00000356127
0.052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586715C>A , CM000664.2:g.178586715C>A | GRCh38 |
| NC_000002.11:g.179451442C>A , CM000664.1:g.179451442C>A | GRCh37 |
| NC_000002.10:g.179159688C>A | NCBI36 |
| NG_011618.3:g.249088G>T , LRG_391:g.249088G>T | |
| NG_051363.1:g.68889C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56482G>T (TTN) | ENSP00000343764.6:p.Ala18828Ser | |
| ENST00000342175.11:c.37567G>T (TTN) | ENSP00000340554.6:p.Ala12523Ser | |
| ENST00000359218.10:c.37366G>T (TTN) | ENSP00000352154.5:p.Ala12456Ser | |
| ENST00000342175.10:c.37567G>T (TTN) | ENSP00000340554.6:p.Ala12523Ser | |
| ENST00000342992.10:c.56482G>T (TTN) | ENSP00000343764.6:p.Ala18828Ser | |
| ENST00000359218.9:c.37366G>T (TTN) | ENSP00000352154.5:p.Ala12456Ser | |
| ENST00000460472.6:c.36991G>T (TTN) | ENSP00000434586.1:p.Ala12331Ser | |
| ENST00000589042.5:c.64186G>T (TTN) MANE Select | ENSP00000467141.1:p.Ala21396Ser | |
| ENST00000591111.5:c.59263G>T (TTN) | ENSP00000465570.1:p.Ala19755Ser | |
| ENST00000615779.4:c.59263G>T (TTN) | ENSP00000483597.1:p.Ala19755Ser | |
| NM_001256850.1:c.59263G>T (TTN) | NP_001243779.1:p.Ala19755Ser | |
| NM_001267550.2:c.64186G>T (TTN) MANE Select | NP_001254479.2:p.Ala21396Ser | |
| NM_003319.4:c.36991G>T (TTN) | NP_003310.4:p.Ala12331Ser | |
| NM_133378.4:c.56482G>T (TTN) | NP_596869.4:p.Ala18828Ser | |
| NM_133432.3:c.37366G>T (TTN) | NP_597676.3:p.Ala12456Ser | |
| NM_133437.4:c.37567G>T (TTN) | NP_597681.4:p.Ala12523Ser | |
| NR_038271.1:n.597-10881C>A (TTN-AS1) | ||
| NR_038272.1:n.3188+1722C>A (TTN-AS1) | ||
| XM_011511729.1:c.63283G>T (TTN) | XP_011510031.1:p.Ala21095Ser | |
| XM_011511730.1:c.37177G>T (TTN) | XP_011510032.1:p.Ala12393Ser | |
| XM_011511731.1:c.37036G>T (TTN) | XP_011510033.1:p.Ala12346Ser | |
| XM_017004819.1:c.63079G>T (TTN) | XP_016860308.1:p.Ala21027Ser | |
| XM_017004820.1:c.58477G>T (TTN) | XP_016860309.1:p.Ala19493Ser | |
| XM_017004821.1:c.58474G>T (TTN) | XP_016860310.1:p.Ala19492Ser | |
| XM_017004822.1:c.55516G>T (TTN) | XP_016860311.1:p.Ala18506Ser | |
| XM_017004823.1:c.37132G>T (TTN) | XP_016860312.1:p.Ala12378Ser | |
| XM_024453094.1:c.58627G>T (TTN) | XP_024308862.1:p.Ala19543Ser | |
| XM_024453095.1:c.58624G>T (TTN) | XP_024308863.1:p.Ala19542Ser | |
| XM_024453096.1:c.58057G>T (TTN) | XP_024308864.1:p.Ala19353Ser | |
| XM_024453097.1:c.55399G>T (TTN) | XP_024308865.1:p.Ala18467Ser | |
| XM_024453098.1:c.55318G>T (TTN) | XP_024308866.1:p.Ala18440Ser | |
| XM_024453099.1:c.37081G>T (TTN) | XP_024308867.1:p.Ala12361Ser | |
| XM_024453100.1:c.26935G>T (TTN) | XP_024308868.1:p.Ala8979Ser |