Revel Score:
ENST00000357054
0.027
ENST00000375202
0.027
ENST00000411667
0.027
ENST00000541524
0.027
ENST00000529487 (MANE Select)
0.027
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343500C>T , CM000671.2:g.97343500C>T | GRCh38 |
| NC_000009.11:g.100105782C>T , CM000671.1:g.100105782C>T | GRCh37 |
| NC_000009.10:g.99145603C>T | NCBI36 |
| NG_052792.1:g.41197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2435C>T (CCDC180) MANE Select | ENSP00000434727.2:p.Ser812Phe | |
| ENST00000460482.6:n.2769C>T (CCDC180) | ||
| ENST00000494917.6:n.2638C>T (CCDC180) | ||
| ENST00000528678.1:n.531C>T (CCDC180) | ||
| ENST00000529487.1:c.2567C>T (CCDC180) | ENSP00000434727.1:p.Ser856Phe | |
| ENST00000530011.1:n.236-5611C>T (CCDC180) | ||
| NM_020893.2:c.2567C>T (CCDC180) | NP_065944.2:p.Ser856Phe | |
| NR_036527.1:n.3990C>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.3990C>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3550C>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2558C>T (CCDC180) | NP_001334939.1:p.Ser853Phe | |
| NM_020893.3:c.2567C>T (CCDC180) | NP_065944.2:p.Ser856Phe | |
| NM_001348010.2:c.2558C>T (CCDC180) | NP_001334939.1:p.Ser853Phe | |
| NM_020893.4:c.2567C>T (CCDC180) | NP_065944.2:p.Ser856Phe | |
| NM_001348010.4:c.2426C>T (CCDC180) | NP_001334939.2:p.Ser809Phe | |
| NM_020893.6:c.2435C>T (CCDC180) MANE Select | NP_065944.3:p.Ser812Phe |