Canonical Allele Identifier: CA7339144

Gene: VRK1

Linked Data

• ClinVar Variation Id: 451762
• ClinVar RCV Id: RCV002413415
• dbSNP Id: rs139734064
• ExAC: 14:97327025 C / T
• gnomAD v2: 14-97327025-C-T
• gnomAD v3: 14-96860688-C-T
• gnomAD v4: 14-96860688-C-T
• MyVariant Identifiers: chr14:g.97327025C>T (hg19) ; chr14:g.96860688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96860688C>T , CM000676.2:g.96860688C>T	GRCh38
NC_000014.8:g.97327025C>T , CM000676.1:g.97327025C>T	GRCh37
NC_000014.7:g.96396778C>T	NCBI36
NG_016293.1:g.68342C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216639.8:c.1021C>T MANE Select	ENSP00000216639.3:p.Leu341Phe
ENST00000553683.2:c.1021C>T	ENSP00000451412.2:p.Leu341Phe
ENST00000557222.6:c.637C>T	ENSP00000450820.2:p.Leu213Phe
ENST00000557352.2:c.1021C>T	ENSP00000451682.2:p.Leu341Phe
ENST00000679365.1:c.1015C>T	ENSP00000505882.1:p.Leu339Phe
ENST00000679462.1:c.1021C>T	ENSP00000506011.1:p.Leu341Phe
ENST00000679506.1:n.3083C>T
ENST00000679533.1:c.*794C>T	ENSP00000505873.1:n.*794C>T
ENST00000679650.1:c.*710C>T	ENSP00000505156.1:n.*710C>T
ENST00000679727.1:c.1015C>T	ENSP00000505844.1:p.Leu339Phe
ENST00000679736.1:c.*165C>T	ENSP00000506517.1:n.*165C>T
ENST00000679758.1:c.1021C>T	ENSP00000505539.1:p.Leu341Phe
ENST00000679770.1:c.1021C>T	ENSP00000505214.1:p.Leu341Phe
ENST00000679816.1:c.1021C>T	ENSP00000506525.1:p.Leu341Phe
ENST00000679843.1:c.324C>T	ENSP00000506467.1:n.324C>T
ENST00000679903.1:c.1021C>T	ENSP00000506022.1:p.Leu341Phe
ENST00000679918.1:c.1021C>T	ENSP00000505439.1:p.Leu341Phe
ENST00000679941.1:c.1021C>T	ENSP00000506520.1:p.Leu341Phe
ENST00000679977.1:c.*267C>T	ENSP00000504897.1:n.*267C>T
ENST00000680007.1:c.1021C>T	ENSP00000505683.1:p.Leu341Phe
ENST00000680084.1:n.1127C>T
ENST00000680222.1:c.*705C>T	ENSP00000506647.1:n.*705C>T
ENST00000680335.1:c.1021C>T	ENSP00000505806.1:p.Leu341Phe
ENST00000680339.1:c.*589C>T	ENSP00000506470.1:n.*589C>T
ENST00000680384.1:c.*911C>T	ENSP00000506237.1:n.*911C>T
ENST00000680387.1:c.1021C>T	ENSP00000504908.1:p.Leu341Phe
ENST00000680509.1:c.1021C>T	ENSP00000505209.1:p.Leu341Phe
ENST00000680526.1:c.*587+24C>T	ENSP00000505595.1:n.*587+24C>T
ENST00000680538.1:c.931C>T	ENSP00000505611.1:p.Leu311Phe
ENST00000680683.1:c.1021C>T	ENSP00000506334.1:p.Leu341Phe
ENST00000680724.1:c.1021C>T	ENSP00000504891.1:p.Leu341Phe
ENST00000680756.1:c.1021C>T	ENSP00000506648.1:p.Leu341Phe
ENST00000680849.1:c.1018C>T	ENSP00000505602.1:p.Leu340Phe
ENST00000680851.1:c.1021C>T	ENSP00000505159.1:p.Leu341Phe
ENST00000680922.1:c.*165C>T	ENSP00000506480.1:n.*165C>T
ENST00000680993.1:c.*385C>T	ENSP00000505511.1:n.*385C>T
ENST00000681061.1:c.645C>T
ENST00000681077.1:c.*655C>T	ENSP00000505642.1:n.*655C>T
ENST00000681101.1:c.1021C>T	ENSP00000506564.1:p.Leu341Phe
ENST00000681176.1:c.895C>T	ENSP00000505454.1:p.Leu299Phe
ENST00000681195.1:c.1021C>T	ENSP00000504933.1:p.Leu341Phe
ENST00000681249.1:c.1021C>T	ENSP00000506013.1:p.Leu341Phe
ENST00000681344.1:c.1021C>T	ENSP00000506151.1:p.Leu341Phe
ENST00000681355.1:c.1021C>T	ENSP00000506214.1:p.Leu341Phe
ENST00000681363.1:c.1021C>T	ENSP00000505564.1:p.Leu341Phe
ENST00000681419.1:c.1021C>T	ENSP00000505512.1:p.Leu341Phe
ENST00000681474.1:c.889+4102C>T	ENSP00000505569.1:n.889+4102C>T
ENST00000681493.1:c.1015C>T	ENSP00000506429.1:p.Leu339Phe
ENST00000681524.1:c.*165C>T	ENSP00000505783.1:n.*165C>T
ENST00000681538.1:c.*190C>T	ENSP00000506662.1:n.*190C>T
ENST00000681598.1:c.*490C>T	ENSP00000506128.1:n.*490C>T
ENST00000681677.1:c.645C>T
ENST00000681695.1:c.*611C>T	ENSP00000506225.1:n.*611C>T
ENST00000681778.1:c.1021C>T	ENSP00000506049.1:p.Leu341Phe
ENST00000681785.1:c.1021C>T	ENSP00000505166.1:p.Leu341Phe
ENST00000216639.7:c.1021C>T	ENSP00000216639.3:p.Leu341Phe
ENST00000555067.1:n.251C>T
ENST00000557222.5:c.590C>T
ENST00000557352.1:c.365C>T
NM_003384.2:c.1021C>T	NP_003375.1:p.Leu341Phe
XM_006720247.2:c.1021C>T	XP_006720310.1:p.Leu341Phe
XM_011537132.1:c.1021C>T	XP_011535434.1:p.Leu341Phe
XM_006720247.4:c.1021C>T	XP_006720310.1:p.Leu341Phe
XM_017021624.2:c.1021C>T	XP_016877113.1:p.Leu341Phe
XM_017021625.1:c.1027C>T	XP_016877114.1:p.Leu343Phe
XM_017021626.2:c.*165C>T	XP_016877115.1:n.*165C>T
XR_001750539.2:n.968C>T
NM_003384.3:c.1021C>T MANE Select	NP_003375.1:p.Leu341Phe