Canonical Allele Identifier: CA115195
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.102830946G>A
GRCh37 chr10:g.104590703G>A
Revel Score:
ENST00000369887 (MANE Select) 0.639
gnomAD v4:
chr10-102830946-G-A
Joint Max Group AF 8.1e-7 (NFE)
Exomes Max Group AF 8.6e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102830946G>A , CM000672.2:g.102830946G>A GRCh38
NC_000010.10:g.104590703G>A , CM000672.1:g.104590703G>A GRCh37
NC_000010.9:g.104580693G>A NCBI36
NG_007955.1:g.11588C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.1283C>T (CYP17A1) MANE Select ENSP00000358903.3:p.Pro428Leu
ENST00000638190.1:c.980C>T (CYP17A1) ENSP00000492539.1:p.Pro327Leu
ENST00000638272.1:c.827C>T (CYP17A1) ENSP00000491508.1:p.Pro276Leu
ENST00000638971.1:c.1196C>T (CYP17A1) ENSP00000492313.1:p.Pro399Leu
ENST00000639393.1:c.1286C>T (CYP17A1) ENSP00000492651.1:p.Pro429Leu
ENST00000640633.1:n.1045C>T (CYP17A1)
ENST00000647664.1:c.*628G>A (WBP1L) ENSP00000498131.1:n.*628G>A
ENST00000369887.3:c.1283C>T (CYP17A1) ENSP00000358903.3:p.Pro428Leu
NM_000102.3:c.1283C>T (CYP17A1) NP_000093.1:p.Pro428Leu
NM_000102.4:c.1283C>T (CYP17A1) MANE Select NP_000093.1:p.Pro428Leu
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