Canonical Allele Identifier: CA1310480909

Gene: PJVK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453544G= , CM000664.2:g.178453544G=	GRCh38
NC_000002.11:g.179318271G= , CM000664.1:g.179318271G=	GRCh37
NC_000002.10:g.179026517G=	NCBI36
NG_009053.1:g.2688C=
NG_012186.1:g.7109G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-334-9G=	ENSP00000494225.1:n.-334-9G=
ENST00000642492.1:c.-444G=	ENSP00000496267.1:n.-444G=
ENST00000643738.1:c.-334-9G=	ENSP00000493684.1:n.-334-9G=
ENST00000644554.1:c.-343G=	ENSP00000495037.1:n.-343G=
ENST00000644580.2:c.135G= MANE Select	ENSP00000495855.2:p.Leu45=
ENST00000645572.1:c.135G=	ENSP00000494301.1:p.Leu45=
ENST00000645762.1:n.249G=
ENST00000645817.1:c.-334-9G=	ENSP00000495731.1:n.-334-9G=
ENST00000647226.1:c.-343G=	ENSP00000496024.1:n.-343G=
ENST00000375129.8:c.135G=	ENSP00000364271.4:p.Leu45=
ENST00000409117.7:c.135G=	ENSP00000386647.3:p.Leu45=
ENST00000437056.5:n.294G=
NM_001042702.3:c.135G=	NP_001036167.1:p.Leu45=
XM_005246627.1:c.144G=	XP_005246684.1:p.Leu48=
XM_005246628.2:c.240G=	XP_005246685.1:p.Leu80=
XM_005246629.2:c.126G=	XP_005246686.1:p.Leu42=
XM_011511247.1:c.240G=	XP_011509549.1:p.Leu80=
XM_011511248.1:c.204G=	XP_011509550.1:p.Leu68=
XM_011511249.1:c.-266-788G=	XP_011509551.1:n.-266-788G=
XM_011511250.1:c.-334-9G=	XP_011509552.1:n.-334-9G=
XM_011511251.1:c.-266-788G=	XP_011509553.1:n.-266-788G=
XR_922929.1:n.907G=
NM_001042702.4:c.135G=	NP_001036167.1:p.Leu45=
NM_001353775.1:c.144G=	NP_001340704.1:p.Leu48=
NM_001353776.1:c.240G=	NP_001340705.1:p.Leu80=
NM_001353777.1:c.-334-9G=	NP_001340706.1:n.-334-9G=
NM_001353778.1:c.-343G=	NP_001340707.1:n.-343G=
XM_005246629.4:c.126G=	XP_005246686.1:p.Leu42=
XM_011511247.3:c.240G=	XP_011509549.1:p.Leu80=
XM_011511249.3:c.-266-788G=	XP_011509551.1:n.-266-788G=
XM_017004221.2:c.240G=	XP_016859710.1:p.Leu80=
XM_017004224.2:c.-1045-9G=	XP_016859713.1:n.-1045-9G=
XM_024452927.1:c.-444G=	XP_024308695.1:n.-444G=
XM_024452928.1:c.-334-9G=	XP_024308696.1:n.-334-9G=
XR_001738753.2:n.1947G=
XR_002959300.1:n.1947G=
XR_922929.3:n.430G=
NM_001042702.5:c.135G= MANE Select	NP_001036167.1:p.Leu45=
NM_001369912.1:c.135G=	NP_001356841.1:p.Leu45=
NM_001353775.2:c.144G=	NP_001340704.1:p.Leu48=
NM_001353776.2:c.240G=	NP_001340705.1:p.Leu80=
NM_001353778.2:c.-343G=	NP_001340707.1:n.-343G=