Revel Score:
ENST00000342992
0.940
ENST00000460472
0.940
ENST00000342175
0.940
ENST00000359218
0.940
ENST00000356127
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614640A>C , CM000664.2:g.178614640A>C | GRCh38 |
| NC_000002.11:g.179479367A>C , CM000664.1:g.179479367A>C | GRCh37 |
| NC_000002.10:g.179187612A>C | NCBI36 |
| NG_011618.3:g.221163T>G , LRG_391:g.221163T>G | |
| NG_051363.1:g.96814A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41170T>G (TTN) | ENSP00000343764.6:p.Trp13724Gly | |
| ENST00000342175.11:c.22255T>G (TTN) | ENSP00000340554.6:p.Trp7419Gly | |
| ENST00000359218.10:c.22054T>G (TTN) | ENSP00000352154.5:p.Trp7352Gly | |
| ENST00000342175.10:c.22255T>G (TTN) | ENSP00000340554.6:p.Trp7419Gly | |
| ENST00000342992.10:c.41170T>G (TTN) | ENSP00000343764.6:p.Trp13724Gly | |
| ENST00000359218.9:c.22054T>G (TTN) | ENSP00000352154.5:p.Trp7352Gly | |
| ENST00000460472.6:c.21679T>G (TTN) | ENSP00000434586.1:p.Trp7227Gly | |
| ENST00000589042.5:c.48874T>G (TTN) MANE Select | ENSP00000467141.1:p.Trp16292Gly | |
| ENST00000591111.5:c.43951T>G (TTN) | ENSP00000465570.1:p.Trp14651Gly | |
| ENST00000615779.4:c.43951T>G (TTN) | ENSP00000483597.1:p.Trp14651Gly | |
| NM_001256850.1:c.43951T>G (TTN) | NP_001243779.1:p.Trp14651Gly | |
| NM_001267550.2:c.48874T>G (TTN) MANE Select | NP_001254479.2:p.Trp16292Gly | |
| NM_003319.4:c.21679T>G (TTN) | NP_003310.4:p.Trp7227Gly | |
| NM_133378.4:c.41170T>G (TTN) | NP_596869.4:p.Trp13724Gly | |
| NM_133432.3:c.22054T>G (TTN) | NP_597676.3:p.Trp7352Gly | |
| NM_133437.4:c.22255T>G (TTN) | NP_597681.4:p.Trp7419Gly | |
| NR_038271.1:n.1388A>C (TTN-AS1) | ||
| XM_011511729.1:c.47971T>G (TTN) | XP_011510031.1:p.Trp15991Gly | |
| XM_011511730.1:c.21865T>G (TTN) | XP_011510032.1:p.Trp7289Gly | |
| XM_011511731.1:c.21724T>G (TTN) | XP_011510033.1:p.Trp7242Gly | |
| XM_017004819.1:c.47767T>G (TTN) | XP_016860308.1:p.Trp15923Gly | |
| XM_017004820.1:c.43165T>G (TTN) | XP_016860309.1:p.Trp14389Gly | |
| XM_017004821.1:c.43162T>G (TTN) | XP_016860310.1:p.Trp14388Gly | |
| XM_017004822.1:c.40204T>G (TTN) | XP_016860311.1:p.Trp13402Gly | |
| XM_017004823.1:c.21820T>G (TTN) | XP_016860312.1:p.Trp7274Gly | |
| XM_024453094.1:c.43315T>G (TTN) | XP_024308862.1:p.Trp14439Gly | |
| XM_024453095.1:c.43312T>G (TTN) | XP_024308863.1:p.Trp14438Gly | |
| XM_024453096.1:c.42745T>G (TTN) | XP_024308864.1:p.Trp14249Gly | |
| XM_024453097.1:c.40087T>G (TTN) | XP_024308865.1:p.Trp13363Gly | |
| XM_024453098.1:c.40006T>G (TTN) | XP_024308866.1:p.Trp13336Gly | |
| XM_024453099.1:c.21769T>G (TTN) | XP_024308867.1:p.Trp7257Gly | |
| XM_024453100.1:c.11623T>G (TTN) | XP_024308868.1:p.Trp3875Gly |