Canonical Allele Identifier: CA349298142

Gene: PDK1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.172562284A>C , CM000664.2:g.172562284A>C	GRCh38
NC_000002.11:g.173427012A>C , CM000664.1:g.173427012A>C	GRCh37
NC_000002.10:g.173135258A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282077.8:c.403A>C MANE Select	ENSP00000282077.3:p.Ile135Leu
ENST00000282077.7:c.403A>C	ENSP00000282077.2:p.Ile135Leu
ENST00000392571.6:c.403A>C	ENSP00000376352.2:p.Ile135Leu
ENST00000410055.5:c.403A>C	ENSP00000386985.1:p.Ile135Leu
ENST00000416991.5:c.165-2219A>C	ENSP00000399160.1:n.165-2219A>C
ENST00000431718.5:c.403A>C	ENSP00000413629.1:p.Ile135Leu
ENST00000436490.5:c.175A>C	ENSP00000406608.1:p.Ile59Leu
ENST00000439519.1:c.175A>C	ENSP00000388366.1:p.Ile59Leu
ENST00000443353.5:c.175A>C	ENSP00000399558.1:p.Ile59Leu
NM_001278549.1:c.403A>C	NP_001265478.1:p.Ile135Leu
NM_002610.4:c.403A>C	NP_002601.1:p.Ile135Leu
NR_103729.1:n.585A>C
NR_103731.1:n.554A>C
XM_006712594.2:c.403A>C	XP_006712657.1:p.Ile135Leu
XM_006712595.2:c.12A>C	XP_006712658.1:p.Leu4=
XM_011511343.1:c.175A>C	XP_011509645.1:p.Ile59Leu
XM_011511344.1:c.175A>C	XP_011509646.1:p.Ile59Leu
XM_011511345.1:c.175A>C	XP_011509647.1:p.Ile59Leu
XM_011511346.1:c.403A>C	XP_011509648.1:p.Ile135Leu
XM_011511347.1:c.175A>C	XP_011509649.1:p.Ile59Leu
XR_427093.1:n.464A>C
XR_427094.1:n.464A>C
XR_427095.1:n.480A>C
XR_922942.1:n.464A>C
XR_922943.1:n.464A>C
XR_922944.1:n.464A>C
XR_922945.1:n.464A>C
XR_922946.1:n.464A>C
XM_006712595.3:c.12A>C	XP_006712658.1:p.Leu4=
XM_011511343.2:c.175A>C	XP_011509645.1:p.Ile59Leu
XM_011511344.2:c.175A>C	XP_011509646.1:p.Ile59Leu
XM_011511345.3:c.175A>C	XP_011509647.1:p.Ile59Leu
XM_011511347.2:c.175A>C	XP_011509649.1:p.Ile59Leu
XR_001738771.1:n.464A>C
XR_001738772.2:n.464A>C
XR_001738773.1:n.464A>C
XR_001738774.2:n.476A>C
XR_001738775.2:n.476A>C
XR_001738776.1:n.464A>C
XR_427093.3:n.464A>C
XR_427095.3:n.476A>C
XR_922942.2:n.464A>C
XR_922943.2:n.464A>C
XR_922944.2:n.464A>C
NM_001278549.2:c.403A>C	NP_001265478.1:p.Ile135Leu
NM_002610.5:c.403A>C MANE Select	NP_002601.1:p.Ile135Leu
NR_103729.2:n.464A>C