Canonical Allele Identifier: CA406879145

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862097A>C , CM000681.2:g.49862097A>C	GRCh38
NC_000019.9:g.50365354A>C , CM000681.1:g.50365354A>C	GRCh37
NC_000019.8:g.55057166A>C	NCBI36
NG_027717.1:g.10469T>G
NG_050666.1:g.18254A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.4:c.1135T>G MANE Select	NP_009185.2:p.Ser379Ala
ENST00000322344.8:c.1135T>G MANE Select	ENSP00000323511.2:p.Ser379Ala
NM_007254.3:c.1135T>G	NP_009185.2:p.Ser379Ala
ENST00000322344.7:c.1135T>G	ENSP00000323511.2:p.Ser379Ala
ENST00000593706.3:n.569T>G
ENST00000593946.5:c.*1062T>G	ENSP00000468896.1:n.*1062T>G
ENST00000594661.5:n.1636T>G
ENST00000596014.5:c.1135T>G	ENSP00000472300.1:p.Ser379Ala
ENST00000600573.5:c.1042T>G	ENSP00000469826.1:p.Ser348Ala
ENST00000600910.5:c.1135T>G	ENSP00000473137.1:p.Ser379Ala
ENST00000601816.3:n.34T>G
ENST00000625216.2:c.216T>G	ENSP00000486898.1:p.Ser72Arg
ENST00000627232.2:c.1055T>G	ENSP00000486037.1:n.1055T>G
ENST00000627317.1:c.756T>G
ENST00000631020.2:c.1027T>G	ENSP00000486707.1:p.Ser343Ala