Canonical Allele Identifier: CA205973
Community Standard Title: NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
Gene: VRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96876111A>G , CM000676.2:g.96876111A>G GRCh38
NC_000014.8:g.97342448A>G , CM000676.1:g.97342448A>G GRCh37
NC_000014.7:g.96412201A>G NCBI36
NG_016293.1:g.83765A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003384.3:c.1150A>G MANE Select NP_003375.1:p.Ile384Val
ENST00000216639.8:c.1150A>G MANE Select ENSP00000216639.3:p.Ile384Val
NM_003384.2:c.1150A>G NP_003375.1:p.Ile384Val
ENST00000216639.7:c.1150A>G ENSP00000216639.3:p.Ile384Val
ENST00000553683.1:c.83A>G
ENST00000553683.2:c.1150A>G ENSP00000451412.2:p.Ile384Val
ENST00000555067.1:n.380A>G
ENST00000555067.2:n.11204A>G
ENST00000557222.5:c.637+15376A>G
ENST00000679365.1:c.1141A>G ENSP00000505882.1:p.Ile381Val
ENST00000679462.1:c.1185A>G ENSP00000506011.1:p.Pro395=
ENST00000679506.1:n.3209A>G
ENST00000679533.1:c.*923A>G ENSP00000505873.1:n.*923A>G
ENST00000679650.1:c.*839A>G ENSP00000505156.1:n.*839A>G
ENST00000679727.1:c.1144A>G ENSP00000505844.1:p.Ile382Val
ENST00000679758.1:c.1068+15376A>G ENSP00000505539.1:n.1068+15376A>G
ENST00000679770.1:c.1150A>G ENSP00000505214.1:p.Ile384Val
ENST00000679816.1:c.1150A>G ENSP00000506525.1:p.Ile384Val
ENST00000679843.1:c.453A>G ENSP00000506467.1:n.453A>G
ENST00000679903.1:c.1141A>G ENSP00000506022.1:p.Ile381Val
ENST00000679918.1:c.1150A>G ENSP00000505439.1:p.Ile384Val
ENST00000679941.1:c.1068+15376A>G ENSP00000506520.1:n.1068+15376A>G
ENST00000679977.1:c.*396A>G ENSP00000504897.1:n.*396A>G
ENST00000680007.1:c.1150A>G ENSP00000505683.1:p.Ile384Val
ENST00000680335.1:c.1068+15376A>G ENSP00000505806.1:n.1068+15376A>G
ENST00000680387.1:c.1147A>G ENSP00000504908.1:p.Ile383Val
ENST00000680526.1:c.*587+15447A>G ENSP00000505595.1:n.*587+15447A>G
ENST00000680538.1:c.1060A>G ENSP00000505611.1:p.Ile354Val
ENST00000680683.1:c.1150A>G ENSP00000506334.1:p.Ile384Val
ENST00000680724.1:c.1150A>G ENSP00000504891.1:p.Ile384Val
ENST00000680756.1:c.1150A>G ENSP00000506648.1:p.Ile384Val
ENST00000680849.1:c.1147A>G ENSP00000505602.1:p.Ile383Val
ENST00000680851.1:c.1069-5066A>G ENSP00000505159.1:n.1069-5066A>G
ENST00000680922.1:c.*212+15376A>G ENSP00000506480.1:n.*212+15376A>G
ENST00000680993.1:c.*432+15376A>G ENSP00000505511.1:n.*432+15376A>G
ENST00000681061.1:c.692+15376A>G
ENST00000681101.1:c.1150A>G ENSP00000506564.1:p.Ile384Val
ENST00000681195.1:c.1147A>G ENSP00000504933.1:p.Ile383Val
ENST00000681249.1:c.1147A>G ENSP00000506013.1:p.Ile383Val
ENST00000681344.1:c.1150A>G ENSP00000506151.1:p.Ile384Val
ENST00000681355.1:c.1150A>G ENSP00000506214.1:p.Ile384Val
ENST00000681363.1:c.*250A>G ENSP00000505564.1:n.*250A>G
ENST00000681419.1:c.1150A>G ENSP00000505512.1:p.Ile384Val
ENST00000681474.1:c.*62A>G ENSP00000505569.1:n.*62A>G
ENST00000681493.1:c.1144A>G ENSP00000506429.1:p.Ile382Val
ENST00000681524.1:c.*294A>G ENSP00000505783.1:n.*294A>G
ENST00000681538.1:c.*319A>G ENSP00000506662.1:n.*319A>G
ENST00000681598.1:c.*537+15376A>G ENSP00000506128.1:n.*537+15376A>G
ENST00000681677.1:c.774A>G
ENST00000681695.1:c.*740A>G ENSP00000506225.1:n.*740A>G
ENST00000681778.1:c.1068+15376A>G ENSP00000506049.1:n.1068+15376A>G
XM_006720247.2:c.1150A>G XP_006720310.1:p.Ile384Val
XM_006720247.4:c.1150A>G XP_006720310.1:p.Ile384Val
XM_011537132.1:c.1147A>G XP_011535434.1:p.Ile383Val
XM_017021624.2:c.1147A>G XP_016877113.1:p.Ile383Val
XM_017021625.1:c.1156A>G XP_016877114.1:p.Ile386Val
XR_001750539.2:n.1097A>G