Canonical Allele Identifier: CA1968818
Gene: PDK1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.172564503C>A , CM000664.2:g.172564503C>A GRCh38
NC_000002.11:g.173429231C>A , CM000664.1:g.173429231C>A GRCh37
NC_000002.10:g.173137477C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282077.8:c.411C>A MANE Select ENSP00000282077.3:p.Asp137Glu
ENST00000282077.7:c.411C>A ENSP00000282077.2:p.Asp137Glu
ENST00000392571.6:c.471C>A ENSP00000376352.2:p.Ile157=
ENST00000410055.5:c.411C>A ENSP00000386985.1:p.Asp137Glu
ENST00000416991.5:c.165C>A ENSP00000399160.1:p.Cys55Ter
ENST00000431718.5:c.411-475C>A ENSP00000413629.1:n.411-475C>A
ENST00000436490.5:c.*73C>A ENSP00000406608.1:n.*73C>A
ENST00000439519.1:c.183C>A ENSP00000388366.1:p.Asp61Glu
ENST00000443353.5:c.183C>A ENSP00000399558.1:p.Asp61Glu
NM_001278549.1:c.471C>A NP_001265478.1:p.Ile157=
NM_002610.4:c.411C>A NP_002601.1:p.Asp137Glu
NR_103729.1:n.593C>A
NR_103731.1:n.562C>A
XM_006712594.2:c.471C>A XP_006712657.1:p.Ile157=
XM_006712595.2:c.20-475C>A XP_006712658.1:n.20-475C>A
XM_011511343.1:c.243C>A XP_011509645.1:p.Ile81=
XM_011511344.1:c.243C>A XP_011509646.1:p.Ile81=
XM_011511345.1:c.183C>A XP_011509647.1:p.Asp61Glu
XM_011511346.1:c.471C>A XP_011509648.1:p.Ile157=
XM_011511347.1:c.243C>A XP_011509649.1:p.Ile81=
XR_427093.1:n.532C>A
XR_427094.1:n.532C>A
XR_427095.1:n.488C>A
XR_922942.1:n.532C>A
XR_922943.1:n.532C>A
XR_922944.1:n.532C>A
XR_922945.1:n.532C>A
XR_922946.1:n.532C>A
XM_006712595.3:c.20-475C>A XP_006712658.1:n.20-475C>A
XM_011511343.2:c.243C>A XP_011509645.1:p.Ile81=
XM_011511344.2:c.243C>A XP_011509646.1:p.Ile81=
XM_011511345.3:c.183C>A XP_011509647.1:p.Asp61Glu
XM_011511347.2:c.243C>A XP_011509649.1:p.Ile81=
XR_001738771.1:n.532C>A
XR_001738772.2:n.532C>A
XR_001738773.1:n.532C>A
XR_001738774.2:n.484C>A
XR_001738775.2:n.484C>A
XR_001738776.1:n.532C>A
XR_427093.3:n.532C>A
XR_427095.3:n.484C>A
XR_922942.2:n.532C>A
XR_922943.2:n.532C>A
XR_922944.2:n.532C>A
NM_001278549.2:c.471C>A NP_001265478.1:p.Ile157=
NM_002610.5:c.411C>A MANE Select NP_002601.1:p.Asp137Glu
NR_103729.2:n.472C>A