Canonical Allele Identifier: CA406933393

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365044G>C (hg19) ; chr19:g.49861787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861787G>C , CM000681.2:g.49861787G>C	GRCh38
NC_000019.9:g.50365044G>C , CM000681.1:g.50365044G>C	GRCh37
NC_000019.8:g.55056856G>C	NCBI36
NG_027717.1:g.10779C>G
NG_050666.1:g.17944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1283C>G MANE Select	ENSP00000323511.2:p.Ala428Gly
ENST00000322344.7:c.1283C>G	ENSP00000323511.2:p.Ala428Gly
ENST00000593946.5:c.*1210C>G	ENSP00000468896.1:n.*1210C>G
ENST00000594661.5:n.1784C>G
ENST00000595081.5:n.110C>G
ENST00000596014.5:c.1283C>G	ENSP00000472300.1:p.Ala428Gly
ENST00000599454.5:n.127C>G
ENST00000600573.5:c.1190C>G	ENSP00000469826.1:p.Ala397Gly
ENST00000600910.5:c.1189-92C>G	ENSP00000473137.1:n.1189-92C>G
ENST00000601816.3:n.182C>G
ENST00000625216.2:c.364C>G	ENSP00000486898.1:n.364C>G
ENST00000627232.2:c.1203C>G	ENSP00000486037.1:n.1203C>G
ENST00000631020.2:c.1175C>G	ENSP00000486707.1:p.Ala392Gly
NM_007254.3:c.1283C>G	NP_009185.2:p.Ala428Gly
NM_007254.4:c.1283C>G MANE Select	NP_009185.2:p.Ala428Gly