Canonical Allele Identifier: CA377938370

Gene: CYP17A1 WBP1L

Linked Data

• dbSNP Id: rs1266656474
• gnomAD v2: 10-104590734-A-C
• MyVariant Identifiers: chr10:g.104590734A>C (hg19) ; chr10:g.102830977A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102830977A>C , CM000672.2:g.102830977A>C	GRCh38
NC_000010.10:g.104590734A>C , CM000672.1:g.104590734A>C	GRCh37
NC_000010.9:g.104580724A>C	NCBI36
NG_007955.1:g.11557T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1252T>G (CYP17A1) MANE Select	ENSP00000358903.3:p.Leu418Val
ENST00000638190.1:c.949T>G (CYP17A1)	ENSP00000492539.1:p.Leu317Val
ENST00000638272.1:c.796T>G (CYP17A1)	ENSP00000491508.1:p.Leu266Val
ENST00000638971.1:c.1165T>G (CYP17A1)	ENSP00000492313.1:p.Leu389Val
ENST00000639393.1:c.1255T>G (CYP17A1)	ENSP00000492651.1:p.Leu419Val
ENST00000640633.1:n.1014T>G (CYP17A1)
ENST00000647664.1:c.*628+31A>C (WBP1L)	ENSP00000498131.1:n.*628+31A>C
ENST00000369887.3:c.1252T>G (CYP17A1)	ENSP00000358903.3:p.Leu418Val
ENST00000469683.1:n.205T>G (CYP17A1)
NM_000102.3:c.1252T>G (CYP17A1)	NP_000093.1:p.Leu418Val
NM_000102.4:c.1252T>G (CYP17A1) MANE Select	NP_000093.1:p.Leu418Val