Revel Score:
ENST00000369887 (MANE Select)
0.412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102831589T>C , CM000672.2:g.102831589T>C | GRCh38 |
| NC_000010.10:g.104591346T>C , CM000672.1:g.104591346T>C | GRCh37 |
| NC_000010.9:g.104581336T>C | NCBI36 |
| NG_007955.1:g.10945A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1162A>G (CYP17A1) MANE Select | ENSP00000358903.3:p.Lys388Glu | |
| ENST00000638190.1:c.859A>G (CYP17A1) | ENSP00000492539.1:p.Lys287Glu | |
| ENST00000638272.1:c.706A>G (CYP17A1) | ENSP00000491508.1:p.Lys236Glu | |
| ENST00000638971.1:c.1075A>G (CYP17A1) | ENSP00000492313.1:p.Lys359Glu | |
| ENST00000639393.1:c.1165A>G (CYP17A1) | ENSP00000492651.1:p.Lys389Glu | |
| ENST00000640633.1:n.924A>G (CYP17A1) | ||
| ENST00000647664.1:c.*629-9T>C (WBP1L) | ENSP00000498131.1:n.*629-9T>C | |
| ENST00000369887.3:c.1162A>G (CYP17A1) | ENSP00000358903.3:p.Lys388Glu | |
| ENST00000469683.1:n.115A>G (CYP17A1) | ||
| NM_000102.3:c.1162A>G (CYP17A1) | NP_000093.1:p.Lys388Glu | |
| NM_000102.4:c.1162A>G (CYP17A1) MANE Select | NP_000093.1:p.Lys388Glu |