Canonical Allele Identifier: CA406932761

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861467-A-T
• MyVariant Identifiers: chr19:g.50364724A>T (hg19) ; chr19:g.49861467A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861467A>T , CM000681.2:g.49861467A>T	GRCh38
NC_000019.9:g.50364724A>T , CM000681.1:g.50364724A>T	GRCh37
NC_000019.8:g.55056536A>T	NCBI36
NG_027717.1:g.11099T>A
NG_050666.1:g.17624A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1430T>A MANE Select	ENSP00000323511.2:p.Met477Lys
ENST00000636840.1:c.59+141T>A
ENST00000640501.1:c.36T>A
ENST00000322344.7:c.1430T>A	ENSP00000323511.2:p.Met477Lys
ENST00000593946.5:c.*1357T>A	ENSP00000468896.1:n.*1357T>A
ENST00000594661.5:n.1931T>A
ENST00000595081.5:n.333T>A
ENST00000596014.5:c.1430T>A	ENSP00000472300.1:p.Met477Lys
ENST00000597965.2:c.137T>A	ENSP00000471097.2:p.Met46Lys
ENST00000599454.5:n.350T>A
ENST00000600573.5:c.1337T>A	ENSP00000469826.1:p.Met446Lys
ENST00000600910.5:c.1320T>A	ENSP00000473137.1:p.His440Gln
ENST00000601816.3:n.502T>A
ENST00000625216.2:c.511T>A	ENSP00000486898.1:n.511T>A
ENST00000627232.2:c.1350T>A	ENSP00000486037.1:n.1350T>A
ENST00000631020.2:c.1322T>A	ENSP00000486707.1:p.Met441Lys
NM_007254.3:c.1430T>A	NP_009185.2:p.Met477Lys
NM_007254.4:c.1430T>A MANE Select	NP_009185.2:p.Met477Lys