Allele Registry

Canonical Allele Identifier: CA316454

Gene: PNKP HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr19:g.49865135G>A

GRCh37 chr19:g.50368392G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000188429

ClinVar Variation:

206387

dbSNP:

375781731

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49865135G>A , CM000681.2:g.49865135G>A	GRCh38
NC_000019.9:g.50368392G>A , CM000681.1:g.50368392G>A	GRCh37
NC_000019.8:g.55060204G>A	NCBI36
NG_027717.1:g.7431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.490C>T MANE Select	ENSP00000323511.2:p.Gln164Ter
ENST00000636214.1:c.*27C>T	ENSP00000489983.1:n.*27C>T
ENST00000322344.7:c.490C>T	ENSP00000323511.2:p.Gln164Ter
ENST00000593946.5:c.*417C>T	ENSP00000468896.1:n.*417C>T
ENST00000594661.5:n.904C>T
ENST00000596014.5:c.490C>T	ENSP00000472300.1:p.Gln164Ter
ENST00000596726.3:c.490C>T	ENSP00000470887.2:p.Gln164Ter
ENST00000599543.3:c.490C>T	ENSP00000469848.2:p.Gln164Ter
ENST00000600573.5:c.490C>T	ENSP00000469826.1:p.Gln164Ter
ENST00000600910.5:c.490C>T	ENSP00000473137.1:p.Gln164Ter
ENST00000625299.1:n.408C>T
ENST00000627232.2:c.490C>T	ENSP00000486037.1:p.Gln164Ter
ENST00000627317.1:c.249C>T
ENST00000629179.1:n.183-732C>T
ENST00000631020.2:c.490C>T	ENSP00000486707.1:p.Gln164Ter
NM_007254.3:c.490C>T	NP_009185.2:p.Gln164Ter
NM_007254.4:c.490C>T MANE Select	NP_009185.2:p.Gln164Ter

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