Canonical Allele Identifier: CA406879490

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365453C>G (hg19) ; chr19:g.49862196C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862196C>G , CM000681.2:g.49862196C>G	GRCh38
NC_000019.9:g.50365453C>G , CM000681.1:g.50365453C>G	GRCh37
NC_000019.8:g.55057265C>G	NCBI36
NG_027717.1:g.10370G>C
NG_050666.1:g.18353C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1115G>C MANE Select	ENSP00000323511.2:p.Gly372Ala
ENST00000322344.7:c.1115G>C	ENSP00000323511.2:p.Gly372Ala
ENST00000593706.3:n.470G>C
ENST00000593946.5:c.*1042G>C	ENSP00000468896.1:n.*1042G>C
ENST00000594661.5:n.1616G>C
ENST00000596014.5:c.1115G>C	ENSP00000472300.1:p.Gly372Ala
ENST00000600573.5:c.1022G>C	ENSP00000469826.1:p.Gly341Ala
ENST00000600910.5:c.1115G>C	ENSP00000473137.1:p.Gly372Ala
ENST00000601816.3:n.14G>C
ENST00000625216.2:c.208-91G>C	ENSP00000486898.1:n.208-91G>C
ENST00000627232.2:c.1035G>C	ENSP00000486037.1:n.1035G>C
ENST00000627317.1:c.736G>C
ENST00000631020.2:c.1007G>C	ENSP00000486707.1:p.Gly336Ala
NM_007254.3:c.1115G>C	NP_009185.2:p.Gly372Ala
NM_007254.4:c.1115G>C MANE Select	NP_009185.2:p.Gly372Ala