Canonical Allele Identifier: CA508296177

Gene: PNKP

Linked Data

• dbSNP Id: rs1400175821
• gnomAD v2: 19-50365304-G-A
• gnomAD v4: 19-49862047-G-A
• MyVariant Identifiers: chr19:g.50365304G>A (hg19) ; chr19:g.49862047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862047G>A , CM000681.2:g.49862047G>A	GRCh38
NC_000019.9:g.50365304G>A , CM000681.1:g.50365304G>A	GRCh37
NC_000019.8:g.55057116G>A	NCBI36
NG_027717.1:g.10519C>T
NG_050666.1:g.18204G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1185C>T MANE Select	ENSP00000323511.2:p.Asn395=
ENST00000322344.7:c.1185C>T	ENSP00000323511.2:p.Asn395=
ENST00000593706.3:n.619C>T
ENST00000593946.5:c.*1112C>T	ENSP00000468896.1:n.*1112C>T
ENST00000594661.5:n.1686C>T
ENST00000596014.5:c.1185C>T	ENSP00000472300.1:p.Asn395=
ENST00000599454.5:n.29C>T
ENST00000600573.5:c.1092C>T	ENSP00000469826.1:p.Asn364=
ENST00000600910.5:c.1185C>T	ENSP00000473137.1:p.Asn395=
ENST00000601816.3:n.84C>T
ENST00000625216.2:c.266C>T	ENSP00000486898.1:n.266C>T
ENST00000627232.2:c.1105C>T	ENSP00000486037.1:n.1105C>T
ENST00000631020.2:c.1077C>T	ENSP00000486707.1:p.Asn359=
NM_007254.3:c.1185C>T	NP_009185.2:p.Asn395=
NM_007254.4:c.1185C>T MANE Select	NP_009185.2:p.Asn395=