Canonical Allele Identifier: CA5669366

Gene: CYP17A1 WBP1L

Linked Data

• dbSNP Id: rs780194004
• ExAC: 10:104591271 T / C
• gnomAD v2: 10-104591271-T-C
• gnomAD v4: 10-102831514-T-C
• MyVariant Identifiers: chr10:g.104591271T>C (hg19) ; chr10:g.102831514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102831514T>C , CM000672.2:g.102831514T>C	GRCh38
NC_000010.10:g.104591271T>C , CM000672.1:g.104591271T>C	GRCh37
NC_000010.9:g.104581261T>C	NCBI36
NG_007955.1:g.11020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1237A>G (CYP17A1) MANE Select	ENSP00000358903.3:p.Met413Val
ENST00000638190.1:c.934A>G (CYP17A1)	ENSP00000492539.1:p.Met312Val
ENST00000638272.1:c.781A>G (CYP17A1)	ENSP00000491508.1:p.Met261Val
ENST00000638971.1:c.1150A>G (CYP17A1)	ENSP00000492313.1:p.Met384Val
ENST00000639393.1:c.1240A>G (CYP17A1)	ENSP00000492651.1:p.Met414Val
ENST00000640633.1:n.999A>G (CYP17A1)
ENST00000647664.1:c.*629-84T>C (WBP1L)	ENSP00000498131.1:n.*629-84T>C
ENST00000369887.3:c.1237A>G (CYP17A1)	ENSP00000358903.3:p.Met413Val
ENST00000469683.1:n.190A>G (CYP17A1)
NM_000102.3:c.1237A>G (CYP17A1)	NP_000093.1:p.Met413Val
NM_000102.4:c.1237A>G (CYP17A1) MANE Select	NP_000093.1:p.Met413Val