Canonical Allele Identifier: CA115191
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.102832611G>A
GRCh37 chr10:g.104592368G>A
Revel Score:
ENST00000369887 (MANE Select) 0.703
gnomAD v2:
10:104592368 G / A
gnomAD v4:
chr10-102832611-G-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000386 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102832611G>A , CM000672.2:g.102832611G>A GRCh38
NC_000010.10:g.104592368G>A , CM000672.1:g.104592368G>A GRCh37
NC_000010.9:g.104582358G>A NCBI36
NG_007955.1:g.9923C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.1039C>T (CYP17A1) MANE Select ENSP00000358903.3:p.Arg347Cys
ENST00000638190.1:c.736C>T (CYP17A1) ENSP00000492539.1:p.Arg246Cys
ENST00000638272.1:c.583C>T (CYP17A1) ENSP00000491508.1:p.Arg195Cys
ENST00000638971.1:c.952C>T (CYP17A1) ENSP00000492313.1:p.Arg318Cys
ENST00000639393.1:c.1039C>T (CYP17A1) ENSP00000492651.1:p.Arg347Cys
ENST00000640633.1:n.801C>T (CYP17A1)
ENST00000647664.1:c.*1642G>A (WBP1L) ENSP00000498131.1:n.*1642G>A
ENST00000369887.3:c.1039C>T (CYP17A1) ENSP00000358903.3:p.Arg347Cys
NM_000102.3:c.1039C>T (CYP17A1) NP_000093.1:p.Arg347Cys
NM_000102.4:c.1039C>T (CYP17A1) MANE Select NP_000093.1:p.Arg347Cys
Search 100 bp 5'
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