Canonical Allele Identifier: CA5669337
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 2820635
ClinVar RCV Id: RCV003709287
dbSNP Id: rs764758497

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102830877T>G , CM000672.2:g.102830877T>G GRCh38
NC_000010.10:g.104590634T>G , CM000672.1:g.104590634T>G GRCh37
NC_000010.9:g.104580624T>G NCBI36
NG_007955.1:g.11657A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.1352A>C (CYP17A1) MANE Select ENSP00000358903.3:p.Glu451Ala
ENST00000638190.1:c.1049A>C (CYP17A1) ENSP00000492539.1:p.Glu350Ala
ENST00000638272.1:c.896A>C (CYP17A1) ENSP00000491508.1:p.Glu299Ala
ENST00000638971.1:c.1265A>C (CYP17A1) ENSP00000492313.1:p.Glu422Ala
ENST00000639393.1:c.1355A>C (CYP17A1) ENSP00000492651.1:p.Glu452Ala
ENST00000640633.1:n.1114A>C (CYP17A1)
ENST00000647664.1:c.*559T>G (WBP1L) ENSP00000498131.1:n.*559T>G
ENST00000369887.3:c.1352A>C (CYP17A1) ENSP00000358903.3:p.Glu451Ala
NM_000102.3:c.1352A>C (CYP17A1) NP_000093.1:p.Glu451Ala
NM_000102.4:c.1352A>C (CYP17A1) MANE Select NP_000093.1:p.Glu451Ala