Canonical Allele Identifier: CA5669323
Community Standard Title: NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102830815G>A , CM000672.2:g.102830815G>A GRCh38
NC_000010.10:g.104590572G>A , CM000672.1:g.104590572G>A GRCh37
NC_000010.9:g.104580562G>A NCBI36
NG_007955.1:g.11719C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000102.4:c.1414C>T (CYP17A1) MANE Select NP_000093.1:p.Gln472Ter
ENST00000369887.4:c.1414C>T (CYP17A1) MANE Select ENSP00000358903.3:p.Gln472Ter
NM_000102.3:c.1414C>T (CYP17A1) NP_000093.1:p.Gln472Ter
ENST00000369887.3:c.1414C>T (CYP17A1) ENSP00000358903.3:p.Gln472Ter
ENST00000638190.1:c.1111C>T (CYP17A1) ENSP00000492539.1:p.Gln371Ter
ENST00000638272.1:c.958C>T (CYP17A1) ENSP00000491508.1:p.Gln320Ter
ENST00000638971.1:c.1327C>T (CYP17A1) ENSP00000492313.1:p.Gln443Ter
ENST00000639393.1:c.1417C>T (CYP17A1) ENSP00000492651.1:p.Gln473Ter
ENST00000640633.1:n.1176C>T (CYP17A1)
ENST00000647664.1:c.*497G>A (WBP1L) ENSP00000498131.1:n.*497G>A