Canonical Allele Identifier: CA377938437

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 1176266
• ClinVar RCV Id: RCV001531706
• dbSNP Id: rs2134081673
• MyVariant Identifiers: chr10:g.104591280C>G (hg19) ; chr10:g.102831523C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102831523C>G , CM000672.2:g.102831523C>G	GRCh38
NC_000010.10:g.104591280C>G , CM000672.1:g.104591280C>G	GRCh37
NC_000010.9:g.104581270C>G	NCBI36
NG_007955.1:g.11011G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1228G>C (CYP17A1) MANE Select	ENSP00000358903.3:p.Asp410His
ENST00000638190.1:c.925G>C (CYP17A1)	ENSP00000492539.1:p.Asp309His
ENST00000638272.1:c.772G>C (CYP17A1)	ENSP00000491508.1:p.Asp258His
ENST00000638971.1:c.1141G>C (CYP17A1)	ENSP00000492313.1:p.Asp381His
ENST00000639393.1:c.1231G>C (CYP17A1)	ENSP00000492651.1:p.Asp411His
ENST00000640633.1:n.990G>C (CYP17A1)
ENST00000647664.1:c.*629-75C>G (WBP1L)	ENSP00000498131.1:n.*629-75C>G
ENST00000369887.3:c.1228G>C (CYP17A1)	ENSP00000358903.3:p.Asp410His
ENST00000469683.1:n.181G>C (CYP17A1)
NM_000102.3:c.1228G>C (CYP17A1)	NP_000093.1:p.Asp410His
NM_000102.4:c.1228G>C (CYP17A1) MANE Select	NP_000093.1:p.Asp410His