COSMIC:
COSM5593735 (not active)
COSM5593736 (not active)
COSM5593737 (not active)
COSM5593738 (not active)
Revel Score:
ENST00000342992
0.426
ENST00000460472
0.426
ENST00000342175
0.426
ENST00000359218
0.426
ENST00000356127
0.426
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002096 (AFR)
Genomes Max Group AF
0.00016634 (AFR)
Exomes Max Group AF
0.00018356 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584743C>T , CM000664.2:g.178584743C>T | GRCh38 |
| NC_000002.11:g.179449470C>T , CM000664.1:g.179449470C>T | GRCh37 |
| NC_000002.10:g.179157716C>T | NCBI36 |
| NG_011618.3:g.251060G>A , LRG_391:g.251060G>A | |
| NG_051363.1:g.66917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57194G>A (TTN) | ENSP00000343764.6:p.Arg19065Gln | |
| ENST00000342175.11:c.38279G>A (TTN) | ENSP00000340554.6:p.Arg12760Gln | |
| ENST00000359218.10:c.38078G>A (TTN) | ENSP00000352154.5:p.Arg12693Gln | |
| ENST00000342175.10:c.38279G>A (TTN) | ENSP00000340554.6:p.Arg12760Gln | |
| ENST00000342992.10:c.57194G>A (TTN) | ENSP00000343764.6:p.Arg19065Gln | |
| ENST00000359218.9:c.38078G>A (TTN) | ENSP00000352154.5:p.Arg12693Gln | |
| ENST00000460472.6:c.37703G>A (TTN) | ENSP00000434586.1:p.Arg12568Gln | |
| ENST00000589042.5:c.64898G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21633Gln | |
| ENST00000591111.5:c.59975G>A (TTN) | ENSP00000465570.1:p.Arg19992Gln | |
| ENST00000615779.4:c.59975G>A (TTN) | ENSP00000483597.1:p.Arg19992Gln | |
| NM_001256850.1:c.59975G>A (TTN) | NP_001243779.1:p.Arg19992Gln | |
| NM_001267550.2:c.64898G>A (TTN) MANE Select | NP_001254479.2:p.Arg21633Gln | |
| NM_003319.4:c.37703G>A (TTN) | NP_003310.4:p.Arg12568Gln | |
| NM_133378.4:c.57194G>A (TTN) | NP_596869.4:p.Arg19065Gln | |
| NM_133432.3:c.38078G>A (TTN) | NP_597676.3:p.Arg12693Gln | |
| NM_133437.4:c.38279G>A (TTN) | NP_597681.4:p.Arg12760Gln | |
| NR_038271.1:n.597-12853C>T (TTN-AS1) | ||
| NR_038272.1:n.2938C>T (TTN-AS1) | ||
| XM_011511729.1:c.63995G>A (TTN) | XP_011510031.1:p.Arg21332Gln | |
| XM_011511730.1:c.37889G>A (TTN) | XP_011510032.1:p.Arg12630Gln | |
| XM_011511731.1:c.37748G>A (TTN) | XP_011510033.1:p.Arg12583Gln | |
| XM_017004819.1:c.63791G>A (TTN) | XP_016860308.1:p.Arg21264Gln | |
| XM_017004820.1:c.59189G>A (TTN) | XP_016860309.1:p.Arg19730Gln | |
| XM_017004821.1:c.59186G>A (TTN) | XP_016860310.1:p.Arg19729Gln | |
| XM_017004822.1:c.56228G>A (TTN) | XP_016860311.1:p.Arg18743Gln | |
| XM_017004823.1:c.37844G>A (TTN) | XP_016860312.1:p.Arg12615Gln | |
| XM_024453094.1:c.59339G>A (TTN) | XP_024308862.1:p.Arg19780Gln | |
| XM_024453095.1:c.59336G>A (TTN) | XP_024308863.1:p.Arg19779Gln | |
| XM_024453096.1:c.58769G>A (TTN) | XP_024308864.1:p.Arg19590Gln | |
| XM_024453097.1:c.56111G>A (TTN) | XP_024308865.1:p.Arg18704Gln | |
| XM_024453098.1:c.56030G>A (TTN) | XP_024308866.1:p.Arg18677Gln | |
| XM_024453099.1:c.37793G>A (TTN) | XP_024308867.1:p.Arg12598Gln | |
| XM_024453100.1:c.27647G>A (TTN) | XP_024308868.1:p.Arg9216Gln |