Canonical Allele Identifier: CA5669401

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 654004
• ClinVar RCV Id: RCV000809884 ; RCV001830766
• dbSNP Id: rs760695410
• ExAC: 10:104592289 T / A
• gnomAD v2: 10-104592289-T-A
• gnomAD v4: 10-102832532-T-A
• MyVariant Identifiers: chr10:g.104592289T>A (hg19) ; chr10:g.102832532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102832532T>A , CM000672.2:g.102832532T>A	GRCh38
NC_000010.10:g.104592289T>A , CM000672.1:g.104592289T>A	GRCh37
NC_000010.9:g.104582279T>A	NCBI36
NG_007955.1:g.10002A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369887.4:c.1118A>T (CYP17A1) MANE Select	ENSP00000358903.3:p.His373Leu
ENST00000638190.1:c.815A>T (CYP17A1)	ENSP00000492539.1:p.His272Leu
ENST00000638272.1:c.662A>T (CYP17A1)	ENSP00000491508.1:p.His221Leu
ENST00000638971.1:c.1031A>T (CYP17A1)	ENSP00000492313.1:p.His344Leu
ENST00000639393.1:c.1118A>T (CYP17A1)	ENSP00000492651.1:p.His373Leu
ENST00000640633.1:n.880A>T (CYP17A1)
ENST00000647664.1:c.*1563T>A (WBP1L)	ENSP00000498131.1:n.*1563T>A
ENST00000369887.3:c.1118A>T (CYP17A1)	ENSP00000358903.3:p.His373Leu
NM_000102.3:c.1118A>T (CYP17A1)	NP_000093.1:p.His373Leu
NM_000102.4:c.1118A>T (CYP17A1) MANE Select	NP_000093.1:p.His373Leu