Canonical Allele Identifier: CA9586381

Gene: PNKP

Linked Data

• dbSNP Id: rs756138433
• ExAC: 19:50364739 A / G
• gnomAD v2: 19-50364739-A-G
• gnomAD v4: 19-49861482-A-G
• MyVariant Identifiers: chr19:g.50364739A>G (hg19) ; chr19:g.49861482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861482A>G , CM000681.2:g.49861482A>G	GRCh38
NC_000019.9:g.50364739A>G , CM000681.1:g.50364739A>G	GRCh37
NC_000019.8:g.55056551A>G	NCBI36
NG_027717.1:g.11084T>C
NG_050666.1:g.17639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1415T>C MANE Select	ENSP00000323511.2:p.Ile472Thr
ENST00000636840.1:c.59+126T>C
ENST00000640501.1:c.21T>C
ENST00000322344.7:c.1415T>C	ENSP00000323511.2:p.Ile472Thr
ENST00000593946.5:c.*1342T>C	ENSP00000468896.1:n.*1342T>C
ENST00000594661.5:n.1916T>C
ENST00000595081.5:n.318T>C
ENST00000596014.5:c.1415T>C	ENSP00000472300.1:p.Ile472Thr
ENST00000597965.2:c.122T>C	ENSP00000471097.2:p.Ile41Thr
ENST00000599454.5:n.335T>C
ENST00000600573.5:c.1322T>C	ENSP00000469826.1:p.Ile441Thr
ENST00000600910.5:c.1305T>C	ENSP00000473137.1:p.Tyr435=
ENST00000601816.3:n.487T>C
ENST00000625216.2:c.496T>C	ENSP00000486898.1:n.496T>C
ENST00000627232.2:c.1335T>C	ENSP00000486037.1:n.1335T>C
ENST00000631020.2:c.1307T>C	ENSP00000486707.1:p.Ile436Thr
NM_007254.3:c.1415T>C	NP_009185.2:p.Ile472Thr
NM_007254.4:c.1415T>C MANE Select	NP_009185.2:p.Ile472Thr