Revel Score:
ENST00000342992
0.242
ENST00000460472
0.242
ENST00000342175
0.242
ENST00000359218
0.242
ENST00000356127
0.242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614736G>A , CM000664.2:g.178614736G>A | GRCh38 |
| NC_000002.11:g.179479463G>A , CM000664.1:g.179479463G>A | GRCh37 |
| NC_000002.10:g.179187708G>A | NCBI36 |
| NG_011618.3:g.221067C>T , LRG_391:g.221067C>T | |
| NG_051363.1:g.96910G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41074C>T (TTN) | ENSP00000343764.6:p.Leu13692Phe | |
| ENST00000342175.11:c.22159C>T (TTN) | ENSP00000340554.6:p.Leu7387Phe | |
| ENST00000359218.10:c.21958C>T (TTN) | ENSP00000352154.5:p.Leu7320Phe | |
| ENST00000342175.10:c.22159C>T (TTN) | ENSP00000340554.6:p.Leu7387Phe | |
| ENST00000342992.10:c.41074C>T (TTN) | ENSP00000343764.6:p.Leu13692Phe | |
| ENST00000359218.9:c.21958C>T (TTN) | ENSP00000352154.5:p.Leu7320Phe | |
| ENST00000460472.6:c.21583C>T (TTN) | ENSP00000434586.1:p.Leu7195Phe | |
| ENST00000589042.5:c.48778C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu16260Phe | |
| ENST00000591111.5:c.43855C>T (TTN) | ENSP00000465570.1:p.Leu14619Phe | |
| ENST00000615779.4:c.43855C>T (TTN) | ENSP00000483597.1:p.Leu14619Phe | |
| NM_001256850.1:c.43855C>T (TTN) | NP_001243779.1:p.Leu14619Phe | |
| NM_001267550.2:c.48778C>T (TTN) MANE Select | NP_001254479.2:p.Leu16260Phe | |
| NM_003319.4:c.21583C>T (TTN) | NP_003310.4:p.Leu7195Phe | |
| NM_133378.4:c.41074C>T (TTN) | NP_596869.4:p.Leu13692Phe | |
| NM_133432.3:c.21958C>T (TTN) | NP_597676.3:p.Leu7320Phe | |
| NM_133437.4:c.22159C>T (TTN) | NP_597681.4:p.Leu7387Phe | |
| NR_038271.1:n.1484G>A (TTN-AS1) | ||
| XM_011511729.1:c.47875C>T (TTN) | XP_011510031.1:p.Leu15959Phe | |
| XM_011511730.1:c.21769C>T (TTN) | XP_011510032.1:p.Leu7257Phe | |
| XM_011511731.1:c.21628C>T (TTN) | XP_011510033.1:p.Leu7210Phe | |
| XM_017004819.1:c.47671C>T (TTN) | XP_016860308.1:p.Leu15891Phe | |
| XM_017004820.1:c.43069C>T (TTN) | XP_016860309.1:p.Leu14357Phe | |
| XM_017004821.1:c.43066C>T (TTN) | XP_016860310.1:p.Leu14356Phe | |
| XM_017004822.1:c.40108C>T (TTN) | XP_016860311.1:p.Leu13370Phe | |
| XM_017004823.1:c.21724C>T (TTN) | XP_016860312.1:p.Leu7242Phe | |
| XM_024453094.1:c.43219C>T (TTN) | XP_024308862.1:p.Leu14407Phe | |
| XM_024453095.1:c.43216C>T (TTN) | XP_024308863.1:p.Leu14406Phe | |
| XM_024453096.1:c.42649C>T (TTN) | XP_024308864.1:p.Leu14217Phe | |
| XM_024453097.1:c.39991C>T (TTN) | XP_024308865.1:p.Leu13331Phe | |
| XM_024453098.1:c.39910C>T (TTN) | XP_024308866.1:p.Leu13304Phe | |
| XM_024453099.1:c.21673C>T (TTN) | XP_024308867.1:p.Leu7225Phe | |
| XM_024453100.1:c.11527C>T (TTN) | XP_024308868.1:p.Leu3843Phe |