Canonical Allele Identifier: CA471287445

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 2862817
• ClinVar RCV Id: RCV003700014
• dbSNP Id: rs554217514
• gnomAD v3: 10-102830960-G-A
• gnomAD v4: 10-102830960-G-A
• MyVariant Identifiers: chr10:g.104590717G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102830960G>A , CM000672.2:g.102830960G>A	GRCh38
NC_000010.10:g.104590717G>A , CM000672.1:g.104590717G>A	GRCh37
NC_000010.9:g.104580707G>A	NCBI36
NG_007955.1:g.11574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1269C>T (CYP17A1) MANE Select	ENSP00000358903.3:p.Thr423=
ENST00000638190.1:c.966C>T (CYP17A1)	ENSP00000492539.1:p.Thr322=
ENST00000638272.1:c.813C>T (CYP17A1)	ENSP00000491508.1:p.Thr271=
ENST00000638971.1:c.1182C>T (CYP17A1)	ENSP00000492313.1:p.Thr394=
ENST00000639393.1:c.1272C>T (CYP17A1)	ENSP00000492651.1:p.Thr424=
ENST00000640633.1:n.1031C>T (CYP17A1)
ENST00000647664.1:c.*628+14G>A (WBP1L)	ENSP00000498131.1:n.*628+14G>A
ENST00000369887.3:c.1269C>T (CYP17A1)	ENSP00000358903.3:p.Thr423=
ENST00000469683.1:n.222C>T (CYP17A1)
NM_000102.3:c.1269C>T (CYP17A1)	NP_000093.1:p.Thr423=
NM_000102.4:c.1269C>T (CYP17A1) MANE Select	NP_000093.1:p.Thr423=