Revel Score:
ENST00000409245
0.826
ENST00000319190 (MANE Select)
0.826
ENST00000394850
0.826
ENST00000263737
0.826
ENST00000434093
0.826
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Genomes Max Group AF
0.0000684 (EAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073861G>A , CM000664.2:g.47073861G>A | GRCh38 |
| NC_000002.11:g.47301000G>A , CM000664.1:g.47301000G>A | GRCh37 |
| NC_000002.10:g.47154504G>A | NCBI36 |
| NG_034143.1:g.162733G>A | |
| NG_034143.2:g.162733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4348G>A (TTC7A) | ||
| ENST00000698503.1:n.2521G>A (TTC7A) | ||
| ENST00000319190.11:c.2515G>A (TTC7A) MANE Select | ENSP00000316699.5:p.Ala839Thr | |
| ENST00000651101.1:n.1113G>A (TTC7A) | ||
| ENST00000651415.1:n.1306G>A (TTC7A) | ||
| ENST00000652236.1:n.1216G>A (TTC7A) | ||
| ENST00000652568.1:n.1188G>A (TTC7A) | ||
| ENST00000319190.9:c.2515G>A (TTC7A) | ENSP00000316699.5:p.Ala839Thr | |
| ENST00000394850.6:c.2587G>A (TTC7A) | ENSP00000378320.2:p.Ala863Thr | |
| ENST00000409245.5:c.2413G>A (TTC7A) | ENSP00000386307.1:p.Ala805Thr | |
| ENST00000409825.5:c.2463G>A (TTC7A) | ||
| ENST00000422269.1:c.787-7724C>T | ||
| ENST00000441914.5:c.2356G>A (TTC7A) | ||
| ENST00000464527.2:n.399-7724C>T (STPG4) | ||
| ENST00000482548.1:n.402-5305C>T (STPG4) | ||
| ENST00000484061.5:n.1622G>A (TTC7A) | ||
| ENST00000491786.5:n.1919G>A (TTC7A) | ||
| ENST00000496939.1:n.416-26942C>T (STPG4) | ||
| NM_001288951.1:c.2587G>A (TTC7A) | NP_001275880.1:p.Ala863Thr | |
| NM_001288953.1:c.2413G>A (TTC7A) | NP_001275882.1:p.Ala805Thr | |
| NM_001288955.1:c.1453G>A (TTC7A) | NP_001275884.1:p.Ala485Thr | |
| NM_020458.3:c.2515G>A (TTC7A) | NP_065191.2:p.Ala839Thr | |
| XM_005264439.2:c.2158G>A (TTC7A) | XP_005264496.1:p.Ala720Thr | |
| XM_011532998.1:c.2158G>A (TTC7A) | XP_011531300.1:p.Ala720Thr | |
| XM_011533000.1:c.1735G>A (TTC7A) | XP_011531302.1:p.Ala579Thr | |
| XM_011533001.1:c.1468G>A (TTC7A) | XP_011531303.1:p.Ala490Thr | |
| XM_005264439.4:c.2158G>A (TTC7A) | XP_005264496.1:p.Ala720Thr | |
| XM_011532998.3:c.2158G>A (TTC7A) | XP_011531300.1:p.Ala720Thr | |
| XM_011533000.3:c.1735G>A (TTC7A) | XP_011531302.1:p.Ala579Thr | |
| XM_011533001.3:c.1468G>A (TTC7A) | XP_011531303.1:p.Ala490Thr | |
| XM_017004524.1:c.2398G>A (TTC7A) | XP_016860013.1:p.Ala800Thr | |
| XM_017004525.1:c.2347G>A (TTC7A) | XP_016860014.1:p.Ala783Thr | |
| XM_017004526.1:c.2266G>A (TTC7A) | XP_016860015.1:p.Ala756Thr | |
| XM_024453013.1:c.1480G>A (TTC7A) | XP_024308781.1:p.Ala494Thr | |
| NM_020458.4:c.2515G>A (TTC7A) MANE Select | NP_065191.2:p.Ala839Thr | |
| NM_001288951.2:c.2587G>A (TTC7A) | NP_001275880.1:p.Ala863Thr | |
| NM_001288953.2:c.2413G>A (TTC7A) | NP_001275882.1:p.Ala805Thr | |
| NM_001288955.2:c.1453G>A (TTC7A) | NP_001275884.1:p.Ala485Thr |