Canonical Allele Identifier: CA377938703

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 1460105
• ClinVar RCV Id: RCV001963236 ; RCV002221694
• dbSNP Id: rs1423560123
• gnomAD v4: 10-102832533-G-T
• MyVariant Identifiers: chr10:g.104592290G>T (hg19) ; chr10:g.102832533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102832533G>T , CM000672.2:g.102832533G>T	GRCh38
NC_000010.10:g.104592290G>T , CM000672.1:g.104592290G>T	GRCh37
NC_000010.9:g.104582280G>T	NCBI36
NG_007955.1:g.10001C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369887.4:c.1117C>A (CYP17A1) MANE Select	ENSP00000358903.3:p.His373Asn
ENST00000638190.1:c.814C>A (CYP17A1)	ENSP00000492539.1:p.His272Asn
ENST00000638272.1:c.661C>A (CYP17A1)	ENSP00000491508.1:p.His221Asn
ENST00000638971.1:c.1030C>A (CYP17A1)	ENSP00000492313.1:p.His344Asn
ENST00000639393.1:c.1117C>A (CYP17A1)	ENSP00000492651.1:p.His373Asn
ENST00000640633.1:n.879C>A (CYP17A1)
ENST00000647664.1:c.*1564G>T (WBP1L)	ENSP00000498131.1:n.*1564G>T
ENST00000369887.3:c.1117C>A (CYP17A1)	ENSP00000358903.3:p.His373Asn
NM_000102.3:c.1117C>A (CYP17A1)	NP_000093.1:p.His373Asn
NM_000102.4:c.1117C>A (CYP17A1) MANE Select	NP_000093.1:p.His373Asn