Canonical Allele Identifier: CA231650

Gene: VRK1

Linked Data

• ClinVar Variation Id: 130730
• ClinVar RCV Id: RCV000118846 ; RCV000322092 ; RCV000559445 ; RCV002227063 ; RCV003488393 ; RCV003952580 ; RCV002444574
• dbSNP Id: rs139476915
• ExAC: 14:97322892 G / T
• gnomAD v2: 14-97322892-G-T
• gnomAD v3: 14-96856555-G-T
• gnomAD v4: 14-96856555-G-T
• MyVariant Identifiers: chr14:g.97322892G>T (hg19) ; chr14:g.96856555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96856555G>T , CM000676.2:g.96856555G>T	GRCh38
NC_000014.8:g.97322892G>T , CM000676.1:g.97322892G>T	GRCh37
NC_000014.7:g.96392645G>T	NCBI36
NG_016293.1:g.64209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216639.8:c.858G>T MANE Select	ENSP00000216639.3:p.Met286Ile
ENST00000553683.2:c.858G>T	ENSP00000451412.2:p.Met286Ile
ENST00000557222.6:c.474G>T	ENSP00000450820.2:p.Met158Ile
ENST00000557352.2:c.858G>T	ENSP00000451682.2:p.Met286Ile
ENST00000679365.1:c.852G>T	ENSP00000505882.1:p.Met284Ile
ENST00000679462.1:c.858G>T	ENSP00000506011.1:p.Met286Ile
ENST00000679506.1:n.2920G>T
ENST00000679533.1:c.*631G>T	ENSP00000505873.1:n.*631G>T
ENST00000679650.1:c.*547G>T	ENSP00000505156.1:n.*547G>T
ENST00000679727.1:c.852G>T	ENSP00000505844.1:p.Met284Ile
ENST00000679736.1:c.*2G>T	ENSP00000506517.1:n.*2G>T
ENST00000679758.1:c.858G>T	ENSP00000505539.1:p.Met286Ile
ENST00000679770.1:c.858G>T	ENSP00000505214.1:p.Met286Ile
ENST00000679816.1:c.858G>T	ENSP00000506525.1:p.Met286Ile
ENST00000679843.1:c.161G>T	ENSP00000506467.1:n.161G>T
ENST00000679903.1:c.858G>T	ENSP00000506022.1:p.Met286Ile
ENST00000679918.1:c.858G>T	ENSP00000505439.1:p.Met286Ile
ENST00000679941.1:c.858G>T	ENSP00000506520.1:p.Met286Ile
ENST00000679977.1:c.*104G>T	ENSP00000504897.1:n.*104G>T
ENST00000680007.1:c.858G>T	ENSP00000505683.1:p.Met286Ile
ENST00000680084.1:n.964G>T
ENST00000680222.1:c.*542G>T	ENSP00000506647.1:n.*542G>T
ENST00000680335.1:c.858G>T	ENSP00000505806.1:p.Met286Ile
ENST00000680339.1:c.*426G>T	ENSP00000506470.1:n.*426G>T
ENST00000680348.1:c.*343G>T	ENSP00000504922.1:n.*343G>T
ENST00000680384.1:c.*748G>T	ENSP00000506237.1:n.*748G>T
ENST00000680387.1:c.858G>T	ENSP00000504908.1:p.Met286Ile
ENST00000680509.1:c.858G>T	ENSP00000505209.1:p.Met286Ile
ENST00000680526.1:c.*448G>T	ENSP00000505595.1:n.*448G>T
ENST00000680538.1:c.858G>T	ENSP00000505611.1:p.Met286Ile
ENST00000680683.1:c.858G>T	ENSP00000506334.1:p.Met286Ile
ENST00000680724.1:c.858G>T	ENSP00000504891.1:p.Met286Ile
ENST00000680756.1:c.858G>T	ENSP00000506648.1:p.Met286Ile
ENST00000680849.1:c.855G>T	ENSP00000505602.1:p.Met285Ile
ENST00000680851.1:c.858G>T	ENSP00000505159.1:p.Met286Ile
ENST00000680922.1:c.*2G>T	ENSP00000506480.1:n.*2G>T
ENST00000680993.1:c.*222G>T	ENSP00000505511.1:n.*222G>T
ENST00000681061.1:c.482G>T
ENST00000681077.1:c.*492G>T	ENSP00000505642.1:n.*492G>T
ENST00000681101.1:c.858G>T	ENSP00000506564.1:p.Met286Ile
ENST00000681176.1:c.732G>T	ENSP00000505454.1:p.Met244Ile
ENST00000681195.1:c.858G>T	ENSP00000504933.1:p.Met286Ile
ENST00000681249.1:c.858G>T	ENSP00000506013.1:p.Met286Ile
ENST00000681344.1:c.858G>T	ENSP00000506151.1:p.Met286Ile
ENST00000681355.1:c.858G>T	ENSP00000506214.1:p.Met286Ile
ENST00000681363.1:c.858G>T	ENSP00000505564.1:p.Met286Ile
ENST00000681419.1:c.858G>T	ENSP00000505512.1:p.Met286Ile
ENST00000681474.1:c.858G>T	ENSP00000505569.1:p.Met286Ile
ENST00000681493.1:c.852G>T	ENSP00000506429.1:p.Met284Ile
ENST00000681524.1:c.*2G>T	ENSP00000505783.1:n.*2G>T
ENST00000681538.1:c.858G>T	ENSP00000506662.1:p.Met286Ile
ENST00000681598.1:c.*327G>T	ENSP00000506128.1:n.*327G>T
ENST00000681677.1:c.482G>T
ENST00000681695.1:c.*448G>T	ENSP00000506225.1:n.*448G>T
ENST00000681778.1:c.858G>T	ENSP00000506049.1:p.Met286Ile
ENST00000681785.1:c.858G>T	ENSP00000505166.1:p.Met286Ile
ENST00000216639.7:c.858G>T	ENSP00000216639.3:p.Met286Ile
ENST00000557222.5:c.427G>T
ENST00000557352.1:c.202G>T
NM_003384.2:c.858G>T	NP_003375.1:p.Met286Ile
XM_006720247.2:c.858G>T	XP_006720310.1:p.Met286Ile
XM_011537132.1:c.858G>T	XP_011535434.1:p.Met286Ile
XM_006720247.4:c.858G>T	XP_006720310.1:p.Met286Ile
XM_017021624.2:c.858G>T	XP_016877113.1:p.Met286Ile
XM_017021625.1:c.864G>T	XP_016877114.1:p.Met288Ile
XM_017021626.2:c.*2G>T	XP_016877115.1:n.*2G>T
XR_001750539.2:n.805G>T
NM_003384.3:c.858G>T MANE Select	NP_003375.1:p.Met286Ile