Canonical Allele Identifier: CA430080854

Gene: PJVK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178461061C>T , CM000664.2:g.178461061C>T	GRCh38
NC_000002.11:g.179325788C>T , CM000664.1:g.179325788C>T	GRCh37
NC_000002.10:g.179034034C>T	NCBI36
NG_012186.1:g.14626C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042702.5:c.846C>T MANE Select	NP_001036167.1:p.Leu282=
ENST00000644580.2:c.846C>T MANE Select	ENSP00000495855.2:p.Leu282=
NM_001042702.3:c.846C>T	NP_001036167.1:p.Leu282=
NM_001042702.4:c.846C>T	NP_001036167.1:p.Leu282=
NM_001353775.1:c.855C>T	NP_001340704.1:p.Leu285=
NM_001353775.2:c.855C>T	NP_001340704.1:p.Leu285=
NM_001353776.1:c.852C>T	NP_001340705.1:p.Leu284=
NM_001353776.2:c.852C>T	NP_001340705.1:p.Leu284=
NM_001353777.1:c.369C>T	NP_001340706.1:p.Leu123=
NM_001353778.1:c.369C>T	NP_001340707.1:p.Leu123=
NM_001353778.2:c.369C>T	NP_001340707.1:p.Leu123=
NM_001369912.1:c.846C>T	NP_001356841.1:p.Leu282=
ENST00000375129.8:c.846C>T	ENSP00000364271.4:p.Leu282=
ENST00000409117.7:c.846C>T	ENSP00000386647.3:p.Leu282=
ENST00000437056.5:n.1716C>T
ENST00000442710.5:c.570C>T
ENST00000642192.1:c.369C>T	ENSP00000494225.1:p.Leu123=
ENST00000642492.1:c.369C>T	ENSP00000496267.1:p.Leu123=
ENST00000642762.1:c.247C>T	ENSP00000496028.1:n.247C>T
ENST00000645572.1:c.747C>T	ENSP00000494301.1:p.Leu249=
ENST00000645817.1:c.369C>T	ENSP00000495731.1:p.Leu123=
ENST00000647226.1:c.369C>T	ENSP00000496024.1:p.Leu123=
XM_005246627.1:c.855C>T	XP_005246684.1:p.Leu285=
XM_005246628.2:c.852C>T	XP_005246685.1:p.Leu284=
XM_005246629.2:c.837C>T	XP_005246686.1:p.Leu279=
XM_005246629.4:c.837C>T	XP_005246686.1:p.Leu279=
XM_011511247.1:c.*76C>T	XP_011509549.1:n.*76C>T
XM_011511247.3:c.*76C>T	XP_011509549.1:n.*76C>T
XM_011511248.1:c.915C>T	XP_011509550.1:p.Leu305=
XM_011511249.1:c.369C>T	XP_011509551.1:p.Leu123=
XM_011511249.3:c.369C>T	XP_011509551.1:p.Leu123=
XM_011511250.1:c.369C>T	XP_011509552.1:p.Leu123=
XM_011511251.1:c.369C>T	XP_011509553.1:p.Leu123=
XM_017004221.2:c.951C>T	XP_016859710.1:p.Leu317=
XM_017004224.2:c.369C>T	XP_016859713.1:p.Leu123=
XM_024452927.1:c.369C>T	XP_024308695.1:p.Leu123=
XM_024452928.1:c.369C>T	XP_024308696.1:p.Leu123=
XR_001738753.2:n.2735C>T
XR_002959300.1:n.2658C>T
XR_922929.1:n.1669C>T
XR_922929.3:n.1192C>T