Canonical Allele Identifier: CA390932129
Community Standard Title: NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
Gene: VRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96860643C>T , CM000676.2:g.96860643C>T GRCh38
NC_000014.8:g.97326980C>T , CM000676.1:g.97326980C>T GRCh37
NC_000014.7:g.96396733C>T NCBI36
NG_016293.1:g.68297C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003384.3:c.976C>T MANE Select NP_003375.1:p.Gln326Ter
ENST00000216639.8:c.976C>T MANE Select ENSP00000216639.3:p.Gln326Ter
NM_003384.2:c.976C>T NP_003375.1:p.Gln326Ter
ENST00000216639.7:c.976C>T ENSP00000216639.3:p.Gln326Ter
ENST00000553683.2:c.976C>T ENSP00000451412.2:p.Gln326Ter
ENST00000555067.1:n.206C>T
ENST00000557222.5:c.545C>T
ENST00000557222.6:c.592C>T ENSP00000450820.2:p.Gln198Ter
ENST00000557352.1:c.320C>T
ENST00000557352.2:c.976C>T ENSP00000451682.2:p.Gln326Ter
ENST00000679365.1:c.970C>T ENSP00000505882.1:p.Gln324Ter
ENST00000679462.1:c.976C>T ENSP00000506011.1:p.Gln326Ter
ENST00000679506.1:n.3038C>T
ENST00000679533.1:c.*749C>T ENSP00000505873.1:n.*749C>T
ENST00000679650.1:c.*665C>T ENSP00000505156.1:n.*665C>T
ENST00000679727.1:c.970C>T ENSP00000505844.1:p.Gln324Ter
ENST00000679736.1:c.*120C>T ENSP00000506517.1:n.*120C>T
ENST00000679758.1:c.976C>T ENSP00000505539.1:p.Gln326Ter
ENST00000679770.1:c.976C>T ENSP00000505214.1:p.Gln326Ter
ENST00000679816.1:c.976C>T ENSP00000506525.1:p.Gln326Ter
ENST00000679843.1:c.279C>T ENSP00000506467.1:n.279C>T
ENST00000679903.1:c.976C>T ENSP00000506022.1:p.Gln326Ter
ENST00000679918.1:c.976C>T ENSP00000505439.1:p.Gln326Ter
ENST00000679941.1:c.976C>T ENSP00000506520.1:p.Gln326Ter
ENST00000679977.1:c.*222C>T ENSP00000504897.1:n.*222C>T
ENST00000680007.1:c.976C>T ENSP00000505683.1:p.Gln326Ter
ENST00000680084.1:n.1082C>T
ENST00000680222.1:c.*660C>T ENSP00000506647.1:n.*660C>T
ENST00000680335.1:c.976C>T ENSP00000505806.1:p.Gln326Ter
ENST00000680339.1:c.*544C>T ENSP00000506470.1:n.*544C>T
ENST00000680348.1:c.*461C>T ENSP00000504922.1:n.*461C>T
ENST00000680384.1:c.*866C>T ENSP00000506237.1:n.*866C>T
ENST00000680387.1:c.976C>T ENSP00000504908.1:p.Gln326Ter
ENST00000680509.1:c.976C>T ENSP00000505209.1:p.Gln326Ter
ENST00000680526.1:c.*566C>T ENSP00000505595.1:n.*566C>T
ENST00000680538.1:c.890-4C>T ENSP00000505611.1:n.890-4C>T
ENST00000680683.1:c.976C>T ENSP00000506334.1:p.Gln326Ter
ENST00000680724.1:c.976C>T ENSP00000504891.1:p.Gln326Ter
ENST00000680756.1:c.976C>T ENSP00000506648.1:p.Gln326Ter
ENST00000680849.1:c.973C>T ENSP00000505602.1:p.Gln325Ter
ENST00000680851.1:c.976C>T ENSP00000505159.1:p.Gln326Ter
ENST00000680922.1:c.*120C>T ENSP00000506480.1:n.*120C>T
ENST00000680993.1:c.*340C>T ENSP00000505511.1:n.*340C>T
ENST00000681061.1:c.600C>T
ENST00000681077.1:c.*610C>T ENSP00000505642.1:n.*610C>T
ENST00000681101.1:c.976C>T ENSP00000506564.1:p.Gln326Ter
ENST00000681176.1:c.850C>T ENSP00000505454.1:p.Gln284Ter
ENST00000681195.1:c.976C>T ENSP00000504933.1:p.Gln326Ter
ENST00000681249.1:c.976C>T ENSP00000506013.1:p.Gln326Ter
ENST00000681344.1:c.976C>T ENSP00000506151.1:p.Gln326Ter
ENST00000681355.1:c.976C>T ENSP00000506214.1:p.Gln326Ter
ENST00000681363.1:c.976C>T ENSP00000505564.1:p.Gln326Ter
ENST00000681419.1:c.976C>T ENSP00000505512.1:p.Gln326Ter
ENST00000681474.1:c.889+4057C>T ENSP00000505569.1:n.889+4057C>T
ENST00000681493.1:c.970C>T ENSP00000506429.1:p.Gln324Ter
ENST00000681524.1:c.*120C>T ENSP00000505783.1:n.*120C>T
ENST00000681538.1:c.*145C>T ENSP00000506662.1:n.*145C>T
ENST00000681598.1:c.*445C>T ENSP00000506128.1:n.*445C>T
ENST00000681677.1:c.600C>T
ENST00000681695.1:c.*566C>T ENSP00000506225.1:n.*566C>T
ENST00000681778.1:c.976C>T ENSP00000506049.1:p.Gln326Ter
ENST00000681785.1:c.976C>T ENSP00000505166.1:p.Gln326Ter
XM_006720247.2:c.976C>T XP_006720310.1:p.Gln326Ter
XM_006720247.4:c.976C>T XP_006720310.1:p.Gln326Ter
XM_011537132.1:c.976C>T XP_011535434.1:p.Gln326Ter
XM_017021624.2:c.976C>T XP_016877113.1:p.Gln326Ter
XM_017021625.1:c.982C>T XP_016877114.1:p.Gln328Ter
XM_017021626.2:c.*120C>T XP_016877115.1:n.*120C>T
XR_001750539.2:n.923C>T