Linked Data
ClinVar Variation Id:
434879
ClinVar RCV Id:
RCV000500014
dbSNP Id:
rs1554879846
gnomAD v4:
10-102831510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102831510G>A , CM000672.2:g.102831510G>A | GRCh38 |
| NC_000010.10:g.104591267G>A , CM000672.1:g.104591267G>A | GRCh37 |
| NC_000010.9:g.104581257G>A | NCBI36 |
| NG_007955.1:g.11024C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1241C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Pro414Leu | |
| ENST00000638190.1:c.938C>T (CYP17A1) | ENSP00000492539.1:p.Pro313Leu | |
| ENST00000638272.1:c.785C>T (CYP17A1) | ENSP00000491508.1:p.Pro262Leu | |
| ENST00000638971.1:c.1154C>T (CYP17A1) | ENSP00000492313.1:p.Pro385Leu | |
| ENST00000639393.1:c.1244C>T (CYP17A1) | ENSP00000492651.1:p.Pro415Leu | |
| ENST00000640633.1:n.1003C>T (CYP17A1) | ||
| ENST00000647664.1:c.*629-88G>A (WBP1L) | ENSP00000498131.1:n.*629-88G>A | |
| ENST00000369887.3:c.1241C>T (CYP17A1) | ENSP00000358903.3:p.Pro414Leu | |
| ENST00000469683.1:n.194C>T (CYP17A1) | ||
| NM_000102.3:c.1241C>T (CYP17A1) | NP_000093.1:p.Pro414Leu | |
| NM_000102.4:c.1241C>T (CYP17A1) MANE Select | NP_000093.1:p.Pro414Leu |