Canonical Allele Identifier: CA5669368

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 1119417
• ClinVar RCV Id: RCV001448878 ; RCV002488256
• dbSNP Id: rs755050448
• ExAC: 10:104591275 C / T
• gnomAD v2: 10-104591275-C-T
• gnomAD v4: 10-102831518-C-T
• MyVariant Identifiers: chr10:g.104591275C>T (hg19) ; chr10:g.102831518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102831518C>T , CM000672.2:g.102831518C>T	GRCh38
NC_000010.10:g.104591275C>T , CM000672.1:g.104591275C>T	GRCh37
NC_000010.9:g.104581265C>T	NCBI36
NG_007955.1:g.11016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1233G>A (CYP17A1) MANE Select	ENSP00000358903.3:p.Gln411=
ENST00000638190.1:c.930G>A (CYP17A1)	ENSP00000492539.1:p.Gln310=
ENST00000638272.1:c.777G>A (CYP17A1)	ENSP00000491508.1:p.Gln259=
ENST00000638971.1:c.1146G>A (CYP17A1)	ENSP00000492313.1:p.Gln382=
ENST00000639393.1:c.1236G>A (CYP17A1)	ENSP00000492651.1:p.Gln412=
ENST00000640633.1:n.995G>A (CYP17A1)
ENST00000647664.1:c.*629-80C>T (WBP1L)	ENSP00000498131.1:n.*629-80C>T
ENST00000369887.3:c.1233G>A (CYP17A1)	ENSP00000358903.3:p.Gln411=
ENST00000469683.1:n.186G>A (CYP17A1)
NM_000102.3:c.1233G>A (CYP17A1)	NP_000093.1:p.Gln411=
NM_000102.4:c.1233G>A (CYP17A1) MANE Select	NP_000093.1:p.Gln411=