COSMIC:
COSN8870756 (not active)
COSN15322447 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38993996 (AFR)
Genomes Max Group AF
0.39050112 (AFR)
Exomes Max Group AF
0.38306887 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127786620G>A , CM000667.2:g.127786620G>A | GRCh38 |
| NC_000005.9:g.127122312G>A , CM000667.1:g.127122312G>A | GRCh37 |
| NC_000005.8:g.127150211G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706942.1:c.280-10483G>A (CCDC192) | ENSP00000516662.1:n.280-10483G>A | |
| ENST00000514853.5:c.223-10483G>A (CCDC192) MANE Select | ENSP00000490579.2:n.223-10483G>A | |
| ENST00000514853.4:c.223-10483G>A (CCDC192) | ENSP00000490579.2:n.223-10483G>A | |
| ENST00000509510.1:n.423C>T (CUL1P1) | ||
| XR_159059.3:n.312-10483G>A (CCDC192) | ||
| XR_246581.3:n.246-10483G>A (CCDC192) | ||
| XR_246582.2:n.178-10483G>A (CCDC192) | ||
| XR_948748.1:n.208-10483G>A (CCDC192) | ||
| XR_948749.1:n.237-10483G>A (CCDC192) | ||
| XR_948750.1:n.405-10483G>A (CCDC192) | ||
| XR_948751.1:n.409-10483G>A (CCDC192) | ||
| XR_948752.1:n.128-10483G>A (CCDC192) | ||
| XR_948753.1:n.315-10483G>A (CCDC192) | ||
| XR_948754.1:n.314-10483G>A (CCDC192) | ||
| XR_948755.1:n.313-10483G>A (CCDC192) | ||
| XR_948756.1:n.313-10483G>A (CCDC192) | ||
| XR_948757.1:n.313-10483G>A (CCDC192) | ||
| XR_948758.1:n.313-10483G>A (CCDC192) | ||
| XR_948759.1:n.313-10483G>A (CCDC192) | ||
| XR_948760.1:n.332-10483G>A (CCDC192) | ||
| XR_948761.1:n.332-10483G>A (CCDC192) | ||
| XR_948762.1:n.313-10483G>A (CCDC192) | ||
| XR_948763.1:n.315-10483G>A (CCDC192) | ||
| XR_948764.1:n.314-10483G>A (CCDC192) | ||
| XR_948765.1:n.313-10483G>A (CCDC192) | ||
| XR_948766.1:n.313-10483G>A (CCDC192) | ||
| NM_001317938.1:c.280-10483G>A (CCDC192) | NP_001304867.1:n.280-10483G>A | |
| XM_017009805.1:c.193-10483G>A (CCDC192) | XP_016865294.1:n.193-10483G>A | |
| XM_017009806.2:c.160-10483G>A (CCDC192) | XP_016865295.1:n.160-10483G>A | |
| XM_017009807.1:c.160-10483G>A (CCDC192) | XP_016865296.1:n.160-10483G>A | |
| XM_017009808.1:c.118-10483G>A (CCDC192) | XP_016865297.1:n.118-10483G>A | |
| XM_017009809.2:c.280-10483G>A (CCDC192) | XP_016865298.1:n.280-10483G>A | |
| XM_017009810.2:c.280-10483G>A (CCDC192) | XP_016865299.1:n.280-10483G>A | |
| XM_017009811.2:c.280-10483G>A (CCDC192) | XP_016865300.1:n.280-10483G>A | |
| XM_017009812.2:c.280-10483G>A (CCDC192) | XP_016865301.1:n.280-10483G>A | |
| XM_017009813.2:c.280-10483G>A (CCDC192) | XP_016865302.1:n.280-10483G>A | |
| XM_024446203.1:c.160-10483G>A (CCDC192) | XP_024301971.1:n.160-10483G>A | |
| XR_002956177.1:n.246-10483G>A (CCDC192) | ||
| XR_948757.3:n.313-10483G>A (CCDC192) | ||
| NM_001317938.2:c.223-10483G>A (CCDC192) MANE Select | NP_001304867.2:n.223-10483G>A |