Canonical Allele Identifier: CA1984302
Community Standard Title: NM_001042702.5(PJVK):c.778A>G (p.Met260Val)
Gene: PJVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178460993A>G , CM000664.2:g.178460993A>G GRCh38
NC_000002.11:g.179325720A>G , CM000664.1:g.179325720A>G GRCh37
NC_000002.10:g.179033966A>G NCBI36
NG_012186.1:g.14558A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042702.5:c.778A>G MANE Select NP_001036167.1:p.Met260Val
ENST00000644580.2:c.778A>G MANE Select ENSP00000495855.2:p.Met260Val
NM_001042702.3:c.778A>G NP_001036167.1:p.Met260Val
NM_001042702.4:c.778A>G NP_001036167.1:p.Met260Val
NM_001353775.1:c.787A>G NP_001340704.1:p.Met263Val
NM_001353775.2:c.787A>G NP_001340704.1:p.Met263Val
NM_001353776.1:c.784A>G NP_001340705.1:p.Met262Val
NM_001353776.2:c.784A>G NP_001340705.1:p.Met262Val
NM_001353777.1:c.301A>G NP_001340706.1:p.Met101Val
NM_001353778.1:c.301A>G NP_001340707.1:p.Met101Val
NM_001353778.2:c.301A>G NP_001340707.1:p.Met101Val
NM_001369912.1:c.778A>G NP_001356841.1:p.Met260Val
ENST00000375129.8:c.778A>G ENSP00000364271.4:p.Met260Val
ENST00000409117.7:c.778A>G ENSP00000386647.3:p.Met260Val
ENST00000437056.5:n.1648A>G
ENST00000442710.5:c.502A>G
ENST00000642192.1:c.301A>G ENSP00000494225.1:p.Met101Val
ENST00000642492.1:c.301A>G ENSP00000496267.1:p.Met101Val
ENST00000642762.1:c.179A>G ENSP00000496028.1:n.179A>G
ENST00000645572.1:c.679A>G ENSP00000494301.1:p.Met227Val
ENST00000645817.1:c.301A>G ENSP00000495731.1:p.Met101Val
ENST00000647226.1:c.301A>G ENSP00000496024.1:p.Met101Val
XM_005246627.1:c.787A>G XP_005246684.1:p.Met263Val
XM_005246628.2:c.784A>G XP_005246685.1:p.Met262Val
XM_005246629.2:c.769A>G XP_005246686.1:p.Met257Val
XM_005246629.4:c.769A>G XP_005246686.1:p.Met257Val
XM_011511247.1:c.*8A>G XP_011509549.1:n.*8A>G
XM_011511247.3:c.*8A>G XP_011509549.1:n.*8A>G
XM_011511248.1:c.847A>G XP_011509550.1:p.Met283Val
XM_011511249.1:c.301A>G XP_011509551.1:p.Met101Val
XM_011511249.3:c.301A>G XP_011509551.1:p.Met101Val
XM_011511250.1:c.301A>G XP_011509552.1:p.Met101Val
XM_011511251.1:c.301A>G XP_011509553.1:p.Met101Val
XM_017004221.2:c.883A>G XP_016859710.1:p.Met295Val
XM_017004224.2:c.301A>G XP_016859713.1:p.Met101Val
XM_024452927.1:c.301A>G XP_024308695.1:p.Met101Val
XM_024452928.1:c.301A>G XP_024308696.1:p.Met101Val
XR_001738753.2:n.2667A>G
XR_002959300.1:n.2590A>G
XR_922929.1:n.1601A>G
XR_922929.3:n.1124A>G