Revel Score:
ENST00000369887 (MANE Select)
0.406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832665A>C , CM000672.2:g.102832665A>C | GRCh38 |
| NC_000010.10:g.104592422A>C , CM000672.1:g.104592422A>C | GRCh37 |
| NC_000010.9:g.104582412A>C | NCBI36 |
| NG_007955.1:g.9869T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.985T>G (CYP17A1) MANE Select | ENSP00000358903.3:p.Tyr329Asp | |
| ENST00000638190.1:c.682T>G (CYP17A1) | ENSP00000492539.1:p.Tyr228Asp | |
| ENST00000638272.1:c.529T>G (CYP17A1) | ENSP00000491508.1:p.Tyr177Asp | |
| ENST00000638971.1:c.898T>G (CYP17A1) | ENSP00000492313.1:p.Tyr300Asp | |
| ENST00000639393.1:c.985T>G (CYP17A1) | ENSP00000492651.1:p.Tyr329Asp | |
| ENST00000640633.1:n.747T>G (CYP17A1) | ||
| ENST00000647664.1:c.*1696A>C (WBP1L) | ENSP00000498131.1:n.*1696A>C | |
| ENST00000369887.3:c.985T>G (CYP17A1) | ENSP00000358903.3:p.Tyr329Asp | |
| NM_000102.3:c.985T>G (CYP17A1) | NP_000093.1:p.Tyr329Asp | |
| NM_000102.4:c.985T>G (CYP17A1) MANE Select | NP_000093.1:p.Tyr329Asp |