Canonical Allele Identifier: CA115192
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.102832566G>A
GRCh37 chr10:g.104592323G>A
Revel Score:
ENST00000369887 (MANE Select) 0.960
gnomAD v2:
10:104592323 G / A
gnomAD v3:
10:102832566 G / A
gnomAD v4:
chr10-102832566-G-A
Joint Max Group AF 0.00000616 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000532 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102832566G>A , CM000672.2:g.102832566G>A GRCh38
NC_000010.10:g.104592323G>A , CM000672.1:g.104592323G>A GRCh37
NC_000010.9:g.104582313G>A NCBI36
NG_007955.1:g.9968C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.1084C>T (CYP17A1) MANE Select ENSP00000358903.3:p.Arg362Cys
ENST00000638190.1:c.781C>T (CYP17A1) ENSP00000492539.1:p.Arg261Cys
ENST00000638272.1:c.628C>T (CYP17A1) ENSP00000491508.1:p.Arg210Cys
ENST00000638971.1:c.997C>T (CYP17A1) ENSP00000492313.1:p.Arg333Cys
ENST00000639393.1:c.1084C>T (CYP17A1) ENSP00000492651.1:p.Arg362Cys
ENST00000640633.1:n.846C>T (CYP17A1)
ENST00000647664.1:c.*1597G>A (WBP1L) ENSP00000498131.1:n.*1597G>A
ENST00000369887.3:c.1084C>T (CYP17A1) ENSP00000358903.3:p.Arg362Cys
NM_000102.3:c.1084C>T (CYP17A1) NP_000093.1:p.Arg362Cys
NM_000102.4:c.1084C>T (CYP17A1) MANE Select NP_000093.1:p.Arg362Cys
Search 100 bp 5'
Search 100 bp 3'