Canonical Allele Identifier: CA406881138

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365677A>C (hg19) ; chr19:g.49862420A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862420A>C , CM000681.2:g.49862420A>C	GRCh38
NC_000019.9:g.50365677A>C , CM000681.1:g.50365677A>C	GRCh37
NC_000019.8:g.55057489A>C	NCBI36
NG_027717.1:g.10146T>G
NG_050666.1:g.18577A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.980T>G MANE Select	ENSP00000323511.2:p.Phe327Cys
ENST00000322344.7:c.980T>G	ENSP00000323511.2:p.Phe327Cys
ENST00000593706.3:n.335T>G
ENST00000593946.5:c.*907T>G	ENSP00000468896.1:n.*907T>G
ENST00000594661.5:n.1481T>G
ENST00000596014.5:c.980T>G	ENSP00000472300.1:p.Phe327Cys
ENST00000600573.5:c.936+118T>G	ENSP00000469826.1:n.936+118T>G
ENST00000600910.5:c.980T>G	ENSP00000473137.1:p.Phe327Cys
ENST00000625216.2:c.158T>G	ENSP00000486898.1:p.Phe53Cys
ENST00000627232.2:c.900T>G	ENSP00000486037.1:n.900T>G
ENST00000627317.1:c.601T>G
ENST00000629179.1:n.751T>G
ENST00000631020.2:c.872T>G	ENSP00000486707.1:p.Phe291Cys
NM_007254.3:c.980T>G	NP_009185.2:p.Phe327Cys
NM_007254.4:c.980T>G MANE Select	NP_009185.2:p.Phe327Cys