Canonical Allele Identifier: CA406881089

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365674A>G (hg19) ; chr19:g.49862417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862417A>G , CM000681.2:g.49862417A>G	GRCh38
NC_000019.9:g.50365674A>G , CM000681.1:g.50365674A>G	GRCh37
NC_000019.8:g.55057486A>G	NCBI36
NG_027717.1:g.10149T>C
NG_050666.1:g.18574A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.983T>C MANE Select	ENSP00000323511.2:p.Phe328Ser
ENST00000322344.7:c.983T>C	ENSP00000323511.2:p.Phe328Ser
ENST00000593706.3:n.338T>C
ENST00000593946.5:c.*910T>C	ENSP00000468896.1:n.*910T>C
ENST00000594661.5:n.1484T>C
ENST00000596014.5:c.983T>C	ENSP00000472300.1:p.Phe328Ser
ENST00000600573.5:c.936+121T>C	ENSP00000469826.1:n.936+121T>C
ENST00000600910.5:c.983T>C	ENSP00000473137.1:p.Phe328Ser
ENST00000625216.2:c.161T>C	ENSP00000486898.1:p.Phe54Ser
ENST00000627232.2:c.903T>C	ENSP00000486037.1:n.903T>C
ENST00000627317.1:c.604T>C
ENST00000629179.1:n.754T>C
ENST00000631020.2:c.875T>C	ENSP00000486707.1:p.Phe292Ser
NM_007254.3:c.983T>C	NP_009185.2:p.Phe328Ser
NM_007254.4:c.983T>C MANE Select	NP_009185.2:p.Phe328Ser