gnomAD v4:
Revel Score:
ENST00000342992
0.638
ENST00000460472
0.638
ENST00000342175
0.638
ENST00000359218
0.638
ENST00000356127
0.638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614735A>C , CM000664.2:g.178614735A>C | GRCh38 |
| NC_000002.11:g.179479462A>C , CM000664.1:g.179479462A>C | GRCh37 |
| NC_000002.10:g.179187707A>C | NCBI36 |
| NG_011618.3:g.221068T>G , LRG_391:g.221068T>G | |
| NG_051363.1:g.96909A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41075T>G (TTN) | ENSP00000343764.6:p.Leu13692Arg | |
| ENST00000342175.11:c.22160T>G (TTN) | ENSP00000340554.6:p.Leu7387Arg | |
| ENST00000359218.10:c.21959T>G (TTN) | ENSP00000352154.5:p.Leu7320Arg | |
| ENST00000342175.10:c.22160T>G (TTN) | ENSP00000340554.6:p.Leu7387Arg | |
| ENST00000342992.10:c.41075T>G (TTN) | ENSP00000343764.6:p.Leu13692Arg | |
| ENST00000359218.9:c.21959T>G (TTN) | ENSP00000352154.5:p.Leu7320Arg | |
| ENST00000460472.6:c.21584T>G (TTN) | ENSP00000434586.1:p.Leu7195Arg | |
| ENST00000589042.5:c.48779T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu16260Arg | |
| ENST00000591111.5:c.43856T>G (TTN) | ENSP00000465570.1:p.Leu14619Arg | |
| ENST00000615779.4:c.43856T>G (TTN) | ENSP00000483597.1:p.Leu14619Arg | |
| NM_001256850.1:c.43856T>G (TTN) | NP_001243779.1:p.Leu14619Arg | |
| NM_001267550.2:c.48779T>G (TTN) MANE Select | NP_001254479.2:p.Leu16260Arg | |
| NM_003319.4:c.21584T>G (TTN) | NP_003310.4:p.Leu7195Arg | |
| NM_133378.4:c.41075T>G (TTN) | NP_596869.4:p.Leu13692Arg | |
| NM_133432.3:c.21959T>G (TTN) | NP_597676.3:p.Leu7320Arg | |
| NM_133437.4:c.22160T>G (TTN) | NP_597681.4:p.Leu7387Arg | |
| NR_038271.1:n.1483A>C (TTN-AS1) | ||
| XM_011511729.1:c.47876T>G (TTN) | XP_011510031.1:p.Leu15959Arg | |
| XM_011511730.1:c.21770T>G (TTN) | XP_011510032.1:p.Leu7257Arg | |
| XM_011511731.1:c.21629T>G (TTN) | XP_011510033.1:p.Leu7210Arg | |
| XM_017004819.1:c.47672T>G (TTN) | XP_016860308.1:p.Leu15891Arg | |
| XM_017004820.1:c.43070T>G (TTN) | XP_016860309.1:p.Leu14357Arg | |
| XM_017004821.1:c.43067T>G (TTN) | XP_016860310.1:p.Leu14356Arg | |
| XM_017004822.1:c.40109T>G (TTN) | XP_016860311.1:p.Leu13370Arg | |
| XM_017004823.1:c.21725T>G (TTN) | XP_016860312.1:p.Leu7242Arg | |
| XM_024453094.1:c.43220T>G (TTN) | XP_024308862.1:p.Leu14407Arg | |
| XM_024453095.1:c.43217T>G (TTN) | XP_024308863.1:p.Leu14406Arg | |
| XM_024453096.1:c.42650T>G (TTN) | XP_024308864.1:p.Leu14217Arg | |
| XM_024453097.1:c.39992T>G (TTN) | XP_024308865.1:p.Leu13331Arg | |
| XM_024453098.1:c.39911T>G (TTN) | XP_024308866.1:p.Leu13304Arg | |
| XM_024453099.1:c.21674T>G (TTN) | XP_024308867.1:p.Leu7225Arg | |
| XM_024453100.1:c.11528T>G (TTN) | XP_024308868.1:p.Leu3843Arg |