Canonical Allele Identifier: CA390932350

Gene: VRK1

Linked Data

• ClinVar Variation Id: 647253
• ClinVar RCV Id: RCV000801726 ; RCV001830726
• dbSNP Id: rs1595691552
• MyVariant Identifiers: chr14:g.97342368A>T (hg19) ; chr14:g.96876031A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96876031A>T , CM000676.2:g.96876031A>T	GRCh38
NC_000014.8:g.97342368A>T , CM000676.1:g.97342368A>T	GRCh37
NC_000014.7:g.96412121A>T	NCBI36
NG_016293.1:g.83685A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216639.8:c.1070A>T MANE Select	ENSP00000216639.3:p.Lys357Met
ENST00000553683.2:c.1070A>T	ENSP00000451412.2:p.Lys357Met
ENST00000555067.2:n.11124A>T
ENST00000679365.1:c.1063-2A>T	ENSP00000505882.1:n.1063-2A>T
ENST00000679462.1:c.1105A>T	ENSP00000506011.1:p.Ser369Cys
ENST00000679506.1:n.3131-2A>T
ENST00000679533.1:c.*843A>T	ENSP00000505873.1:n.*843A>T
ENST00000679650.1:c.*759A>T	ENSP00000505156.1:n.*759A>T
ENST00000679727.1:c.1064A>T	ENSP00000505844.1:p.Lys355Met
ENST00000679758.1:c.1068+15296A>T	ENSP00000505539.1:n.1068+15296A>T
ENST00000679770.1:c.1070A>T	ENSP00000505214.1:p.Lys357Met
ENST00000679816.1:c.1070A>T	ENSP00000506525.1:p.Lys357Met
ENST00000679843.1:c.373A>T	ENSP00000506467.1:n.373A>T
ENST00000679903.1:c.1069-8A>T	ENSP00000506022.1:n.1069-8A>T
ENST00000679918.1:c.1070A>T	ENSP00000505439.1:p.Lys357Met
ENST00000679941.1:c.1068+15296A>T	ENSP00000506520.1:n.1068+15296A>T
ENST00000679977.1:c.*316A>T	ENSP00000504897.1:n.*316A>T
ENST00000680007.1:c.1070A>T	ENSP00000505683.1:p.Lys357Met
ENST00000680335.1:c.1068+15296A>T	ENSP00000505806.1:n.1068+15296A>T
ENST00000680387.1:c.1069-2A>T	ENSP00000504908.1:n.1069-2A>T
ENST00000680526.1:c.*587+15367A>T	ENSP00000505595.1:n.*587+15367A>T
ENST00000680538.1:c.980A>T	ENSP00000505611.1:p.Lys327Met
ENST00000680683.1:c.1070A>T	ENSP00000506334.1:p.Lys357Met
ENST00000680724.1:c.1070A>T	ENSP00000504891.1:p.Lys357Met
ENST00000680756.1:c.1070A>T	ENSP00000506648.1:p.Lys357Met
ENST00000680849.1:c.1067A>T	ENSP00000505602.1:p.Lys356Met
ENST00000680851.1:c.1069-5146A>T	ENSP00000505159.1:n.1069-5146A>T
ENST00000680922.1:c.*212+15296A>T	ENSP00000506480.1:n.*212+15296A>T
ENST00000680993.1:c.*432+15296A>T	ENSP00000505511.1:n.*432+15296A>T
ENST00000681061.1:c.692+15296A>T
ENST00000681101.1:c.1070A>T	ENSP00000506564.1:p.Lys357Met
ENST00000681195.1:c.1069-2A>T	ENSP00000504933.1:n.1069-2A>T
ENST00000681249.1:c.1069-2A>T	ENSP00000506013.1:n.1069-2A>T
ENST00000681344.1:c.1070A>T	ENSP00000506151.1:p.Lys357Met
ENST00000681355.1:c.1070A>T	ENSP00000506214.1:p.Lys357Met
ENST00000681363.1:c.*170A>T	ENSP00000505564.1:n.*170A>T
ENST00000681419.1:c.1070A>T	ENSP00000505512.1:p.Lys357Met
ENST00000681474.1:c.891A>T	ENSP00000505569.1:p.Glu297Asp
ENST00000681493.1:c.1064A>T	ENSP00000506429.1:p.Lys355Met
ENST00000681524.1:c.*214A>T	ENSP00000505783.1:n.*214A>T
ENST00000681538.1:c.*239A>T	ENSP00000506662.1:n.*239A>T
ENST00000681598.1:c.*537+15296A>T	ENSP00000506128.1:n.*537+15296A>T
ENST00000681677.1:c.694A>T
ENST00000681695.1:c.*660A>T	ENSP00000506225.1:n.*660A>T
ENST00000681778.1:c.1068+15296A>T	ENSP00000506049.1:n.1068+15296A>T
ENST00000216639.7:c.1070A>T	ENSP00000216639.3:p.Lys357Met
ENST00000553683.1:c.3A>T
ENST00000555067.1:n.300A>T
ENST00000557222.5:c.637+15296A>T
NM_003384.2:c.1070A>T	NP_003375.1:p.Lys357Met
XM_006720247.2:c.1070A>T	XP_006720310.1:p.Lys357Met
XM_011537132.1:c.1069-2A>T	XP_011535434.1:n.1069-2A>T
XM_006720247.4:c.1070A>T	XP_006720310.1:p.Lys357Met
XM_017021624.2:c.1069-2A>T	XP_016877113.1:n.1069-2A>T
XM_017021625.1:c.1076A>T	XP_016877114.1:p.Lys359Met
XR_001750539.2:n.1017A>T
NM_003384.3:c.1070A>T MANE Select	NP_003375.1:p.Lys357Met