Revel Score:
ENST00000342992
0.192
ENST00000460472
0.192
ENST00000342175
0.192
ENST00000359218
0.192
ENST00000356127
0.192
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531644T>C , CM000664.2:g.178531644T>C | GRCh38 |
| NC_000002.11:g.179396371T>C , CM000664.1:g.179396371T>C | GRCh37 |
| NC_000002.10:g.179104617T>C | NCBI36 |
| NG_011618.3:g.304159A>G , LRG_391:g.304159A>G | |
| NG_051363.1:g.13818T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97267A>G (TTN) | ENSP00000343764.6:p.Thr32423Ala | |
| ENST00000342175.11:c.78352A>G (TTN) | ENSP00000340554.6:p.Thr26118Ala | |
| ENST00000359218.10:c.78151A>G (TTN) | ENSP00000352154.5:p.Thr26051Ala | |
| ENST00000342175.10:c.78352A>G (TTN) | ENSP00000340554.6:p.Thr26118Ala | |
| ENST00000342992.10:c.97267A>G (TTN) | ENSP00000343764.6:p.Thr32423Ala | |
| ENST00000359218.9:c.78151A>G (TTN) | ENSP00000352154.5:p.Thr26051Ala | |
| ENST00000460472.6:c.77776A>G (TTN) | ENSP00000434586.1:p.Thr25926Ala | |
| ENST00000589042.5:c.104971A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr34991Ala | |
| ENST00000591111.5:c.100048A>G (TTN) | ENSP00000465570.1:p.Thr33350Ala | |
| ENST00000615779.4:c.100048A>G (TTN) | ENSP00000483597.1:p.Thr33350Ala | |
| NM_001256850.1:c.100048A>G (TTN) | NP_001243779.1:p.Thr33350Ala | |
| NM_001267550.2:c.104971A>G (TTN) MANE Select | NP_001254479.2:p.Thr34991Ala | |
| NM_003319.4:c.77776A>G (TTN) | NP_003310.4:p.Thr25926Ala | |
| NM_133378.4:c.97267A>G (TTN) | NP_596869.4:p.Thr32423Ala | |
| NM_133432.3:c.78151A>G (TTN) | NP_597676.3:p.Thr26051Ala | |
| NM_133437.4:c.78352A>G (TTN) | NP_597681.4:p.Thr26118Ala | |
| NR_038271.1:n.446+8008T>C (TTN-AS1) | ||
| NR_038272.1:n.220-4088T>C (TTN-AS1) | ||
| XM_011511729.1:c.104068A>G (TTN) | XP_011510031.1:p.Thr34690Ala | |
| XM_011511730.1:c.77962A>G (TTN) | XP_011510032.1:p.Thr25988Ala | |
| XM_011511731.1:c.77821A>G (TTN) | XP_011510033.1:p.Thr25941Ala | |
| XM_017004819.1:c.103864A>G (TTN) | XP_016860308.1:p.Thr34622Ala | |
| XM_017004820.1:c.99262A>G (TTN) | XP_016860309.1:p.Thr33088Ala | |
| XM_017004821.1:c.99259A>G (TTN) | XP_016860310.1:p.Thr33087Ala | |
| XM_017004822.1:c.96301A>G (TTN) | XP_016860311.1:p.Thr32101Ala | |
| XM_017004823.1:c.77917A>G (TTN) | XP_016860312.1:p.Thr25973Ala | |
| XM_024453094.1:c.99412A>G (TTN) | XP_024308862.1:p.Thr33138Ala | |
| XM_024453095.1:c.99409A>G (TTN) | XP_024308863.1:p.Thr33137Ala | |
| XM_024453096.1:c.98842A>G (TTN) | XP_024308864.1:p.Thr32948Ala | |
| XM_024453097.1:c.96184A>G (TTN) | XP_024308865.1:p.Thr32062Ala | |
| XM_024453098.1:c.96103A>G (TTN) | XP_024308866.1:p.Thr32035Ala | |
| XM_024453099.1:c.77866A>G (TTN) | XP_024308867.1:p.Thr25956Ala | |
| XM_024453100.1:c.67720A>G (TTN) | XP_024308868.1:p.Thr22574Ala |