Canonical Allele Identifier: CA2753337798
Gene: PJVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178456158C>A , CM000664.2:g.178456158C>A GRCh38
NC_000002.11:g.179320885C>A , CM000664.1:g.179320885C>A GRCh37
NC_000002.10:g.179029131C>A NCBI36
NG_009053.1:g.74G>T
NG_012186.1:g.9723C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642192.1:c.72+7C>A ENSP00000494225.1:n.72+7C>A
ENST00000642492.1:c.72+7C>A ENSP00000496267.1:n.72+7C>A
ENST00000643738.1:c.72+7C>A ENSP00000493684.1:n.72+7C>A
ENST00000643768.1:n.206+7C>A
ENST00000644580.2:c.549+7C>A MANE Select ENSP00000495855.2:n.549+7C>A
ENST00000645572.1:c.549+7C>A ENSP00000494301.1:n.549+7C>A
ENST00000645762.1:n.670C>A
ENST00000645817.1:c.72+7C>A ENSP00000495731.1:n.72+7C>A
ENST00000647226.1:c.72+7C>A ENSP00000496024.1:n.72+7C>A
ENST00000375129.8:c.549+7C>A ENSP00000364271.4:n.549+7C>A
ENST00000409117.7:c.549+7C>A ENSP00000386647.3:n.549+7C>A
ENST00000437056.5:n.1419+7C>A
ENST00000442710.5:c.391+7C>A
ENST00000444615.1:c.191+7C>A
NM_001042702.3:c.549+7C>A NP_001036167.1:n.549+7C>A
XM_005246627.1:c.558+7C>A XP_005246684.1:n.558+7C>A
XM_005246628.2:c.654+7C>A XP_005246685.1:n.654+7C>A
XM_005246629.2:c.540+7C>A XP_005246686.1:n.540+7C>A
XM_011511247.1:c.654+7C>A XP_011509549.1:n.654+7C>A
XM_011511248.1:c.618+7C>A XP_011509550.1:n.618+7C>A
XM_011511249.1:c.72+7C>A XP_011509551.1:n.72+7C>A
XM_011511250.1:c.72+7C>A XP_011509552.1:n.72+7C>A
XM_011511251.1:c.72+7C>A XP_011509553.1:n.72+7C>A
XR_922929.1:n.1321+7C>A
NM_001042702.4:c.549+7C>A NP_001036167.1:n.549+7C>A
NM_001353775.1:c.558+7C>A NP_001340704.1:n.558+7C>A
NM_001353776.1:c.654+7C>A NP_001340705.1:n.654+7C>A
NM_001353777.1:c.72+7C>A NP_001340706.1:n.72+7C>A
NM_001353778.1:c.72+7C>A NP_001340707.1:n.72+7C>A
XM_005246629.4:c.540+7C>A XP_005246686.1:n.540+7C>A
XM_011511247.3:c.654+7C>A XP_011509549.1:n.654+7C>A
XM_011511249.3:c.72+7C>A XP_011509551.1:n.72+7C>A
XM_017004221.2:c.654+7C>A XP_016859710.1:n.654+7C>A
XM_017004224.2:c.72+7C>A XP_016859713.1:n.72+7C>A
XM_024452927.1:c.72+7C>A XP_024308695.1:n.72+7C>A
XM_024452928.1:c.72+7C>A XP_024308696.1:n.72+7C>A
XR_001738753.2:n.2361+7C>A
XR_002959300.1:n.2361+7C>A
XR_922929.3:n.844+7C>A
NM_001042702.5:c.549+7C>A MANE Select NP_001036167.1:n.549+7C>A
NM_001369912.1:c.549+7C>A NP_001356841.1:n.549+7C>A
NM_001353775.2:c.558+7C>A NP_001340704.1:n.558+7C>A
NM_001353776.2:c.654+7C>A NP_001340705.1:n.654+7C>A
NM_001353778.2:c.72+7C>A NP_001340707.1:n.72+7C>A