Revel Score:
ENST00000342992
0.288
ENST00000460472
0.288
ENST00000342175
0.288
ENST00000359218
0.288
ENST00000356127
0.288
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000573 (AMR)
Exomes Max Group AF
0.00000778 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590237A>C , CM000664.2:g.178590237A>C | GRCh38 |
| NC_000002.11:g.179454964A>C , CM000664.1:g.179454964A>C | GRCh37 |
| NC_000002.10:g.179163210A>C | NCBI36 |
| NG_011618.3:g.245566T>G , LRG_391:g.245566T>G | |
| NG_051363.1:g.72411A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53784T>G (TTN) | ENSP00000343764.6:p.Ile17928Met | |
| ENST00000342175.11:c.34869T>G (TTN) | ENSP00000340554.6:p.Ile11623Met | |
| ENST00000359218.10:c.34668T>G (TTN) | ENSP00000352154.5:p.Ile11556Met | |
| ENST00000342175.10:c.34869T>G (TTN) | ENSP00000340554.6:p.Ile11623Met | |
| ENST00000342992.10:c.53784T>G (TTN) | ENSP00000343764.6:p.Ile17928Met | |
| ENST00000359218.9:c.34668T>G (TTN) | ENSP00000352154.5:p.Ile11556Met | |
| ENST00000460472.6:c.34293T>G (TTN) | ENSP00000434586.1:p.Ile11431Met | |
| ENST00000589042.5:c.61488T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile20496Met | |
| ENST00000591111.5:c.56565T>G (TTN) | ENSP00000465570.1:p.Ile18855Met | |
| ENST00000615779.4:c.56565T>G (TTN) | ENSP00000483597.1:p.Ile18855Met | |
| NM_001256850.1:c.56565T>G (TTN) | NP_001243779.1:p.Ile18855Met | |
| NM_001267550.2:c.61488T>G (TTN) MANE Select | NP_001254479.2:p.Ile20496Met | |
| NM_003319.4:c.34293T>G (TTN) | NP_003310.4:p.Ile11431Met | |
| NM_133378.4:c.53784T>G (TTN) | NP_596869.4:p.Ile17928Met | |
| NM_133432.3:c.34668T>G (TTN) | NP_597676.3:p.Ile11556Met | |
| NM_133437.4:c.34869T>G (TTN) | NP_597681.4:p.Ile11623Met | |
| NR_038271.1:n.597-7359A>C (TTN-AS1) | ||
| NR_038272.1:n.3189-902A>C (TTN-AS1) | ||
| XM_011511729.1:c.60585T>G (TTN) | XP_011510031.1:p.Ile20195Met | |
| XM_011511730.1:c.34479T>G (TTN) | XP_011510032.1:p.Ile11493Met | |
| XM_011511731.1:c.34338T>G (TTN) | XP_011510033.1:p.Ile11446Met | |
| XM_017004819.1:c.60381T>G (TTN) | XP_016860308.1:p.Ile20127Met | |
| XM_017004820.1:c.55779T>G (TTN) | XP_016860309.1:p.Ile18593Met | |
| XM_017004821.1:c.55776T>G (TTN) | XP_016860310.1:p.Ile18592Met | |
| XM_017004822.1:c.52818T>G (TTN) | XP_016860311.1:p.Ile17606Met | |
| XM_017004823.1:c.34434T>G (TTN) | XP_016860312.1:p.Ile11478Met | |
| XM_024453094.1:c.55929T>G (TTN) | XP_024308862.1:p.Ile18643Met | |
| XM_024453095.1:c.55926T>G (TTN) | XP_024308863.1:p.Ile18642Met | |
| XM_024453096.1:c.55359T>G (TTN) | XP_024308864.1:p.Ile18453Met | |
| XM_024453097.1:c.52701T>G (TTN) | XP_024308865.1:p.Ile17567Met | |
| XM_024453098.1:c.52620T>G (TTN) | XP_024308866.1:p.Ile17540Met | |
| XM_024453099.1:c.34383T>G (TTN) | XP_024308867.1:p.Ile11461Met | |
| XM_024453100.1:c.24237T>G (TTN) | XP_024308868.1:p.Ile8079Met |