Revel Score:
ENST00000342992
0.112
ENST00000460472
0.112
ENST00000342175
0.112
ENST00000359218
0.112
ENST00000356127
0.112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607491C>A , CM000664.2:g.178607491C>A | GRCh38 |
| NC_000002.11:g.179472218C>A , CM000664.1:g.179472218C>A | GRCh37 |
| NC_000002.10:g.179180463C>A | NCBI36 |
| NG_011618.3:g.228312G>T , LRG_391:g.228312G>T | |
| NG_051363.1:g.89665C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45493G>T (TTN) | ENSP00000343764.6:p.Asp15165Tyr | |
| ENST00000342175.11:c.26578G>T (TTN) | ENSP00000340554.6:p.Asp8860Tyr | |
| ENST00000359218.10:c.26377G>T (TTN) | ENSP00000352154.5:p.Asp8793Tyr | |
| ENST00000342175.10:c.26578G>T (TTN) | ENSP00000340554.6:p.Asp8860Tyr | |
| ENST00000342992.10:c.45493G>T (TTN) | ENSP00000343764.6:p.Asp15165Tyr | |
| ENST00000359218.9:c.26377G>T (TTN) | ENSP00000352154.5:p.Asp8793Tyr | |
| ENST00000460472.6:c.26002G>T (TTN) | ENSP00000434586.1:p.Asp8668Tyr | |
| ENST00000589042.5:c.53197G>T (TTN) MANE Select | ENSP00000467141.1:p.Asp17733Tyr | |
| ENST00000591111.5:c.48274G>T (TTN) | ENSP00000465570.1:p.Asp16092Tyr | |
| ENST00000615779.4:c.48274G>T (TTN) | ENSP00000483597.1:p.Asp16092Tyr | |
| NM_001256850.1:c.48274G>T (TTN) | NP_001243779.1:p.Asp16092Tyr | |
| NM_001267550.2:c.53197G>T (TTN) MANE Select | NP_001254479.2:p.Asp17733Tyr | |
| NM_003319.4:c.26002G>T (TTN) | NP_003310.4:p.Asp8668Tyr | |
| NM_133378.4:c.45493G>T (TTN) | NP_596869.4:p.Asp15165Tyr | |
| NM_133432.3:c.26377G>T (TTN) | NP_597676.3:p.Asp8793Tyr | |
| NM_133437.4:c.26578G>T (TTN) | NP_597681.4:p.Asp8860Tyr | |
| NR_038271.1:n.683-676C>A (TTN-AS1) | ||
| XM_011511729.1:c.52294G>T (TTN) | XP_011510031.1:p.Asp17432Tyr | |
| XM_011511730.1:c.26188G>T (TTN) | XP_011510032.1:p.Asp8730Tyr | |
| XM_011511731.1:c.26047G>T (TTN) | XP_011510033.1:p.Asp8683Tyr | |
| XM_017004819.1:c.52090G>T (TTN) | XP_016860308.1:p.Asp17364Tyr | |
| XM_017004820.1:c.47488G>T (TTN) | XP_016860309.1:p.Asp15830Tyr | |
| XM_017004821.1:c.47485G>T (TTN) | XP_016860310.1:p.Asp15829Tyr | |
| XM_017004822.1:c.44527G>T (TTN) | XP_016860311.1:p.Asp14843Tyr | |
| XM_017004823.1:c.26143G>T (TTN) | XP_016860312.1:p.Asp8715Tyr | |
| XM_024453094.1:c.47638G>T (TTN) | XP_024308862.1:p.Asp15880Tyr | |
| XM_024453095.1:c.47635G>T (TTN) | XP_024308863.1:p.Asp15879Tyr | |
| XM_024453096.1:c.47068G>T (TTN) | XP_024308864.1:p.Asp15690Tyr | |
| XM_024453097.1:c.44410G>T (TTN) | XP_024308865.1:p.Asp14804Tyr | |
| XM_024453098.1:c.44329G>T (TTN) | XP_024308866.1:p.Asp14777Tyr | |
| XM_024453099.1:c.26092G>T (TTN) | XP_024308867.1:p.Asp8698Tyr | |
| XM_024453100.1:c.15946G>T (TTN) | XP_024308868.1:p.Asp5316Tyr |