Canonical Allele Identifier: CA406880985

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862410-C-A
• MyVariant Identifiers: chr19:g.50365667C>A (hg19) ; chr19:g.49862410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862410C>A , CM000681.2:g.49862410C>A	GRCh38
NC_000019.9:g.50365667C>A , CM000681.1:g.50365667C>A	GRCh37
NC_000019.8:g.55057479C>A	NCBI36
NG_027717.1:g.10156G>T
NG_050666.1:g.18567C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.990G>T MANE Select	ENSP00000323511.2:p.Lys330Asn
ENST00000322344.7:c.990G>T	ENSP00000323511.2:p.Lys330Asn
ENST00000593706.3:n.345G>T
ENST00000593946.5:c.*917G>T	ENSP00000468896.1:n.*917G>T
ENST00000594661.5:n.1491G>T
ENST00000596014.5:c.990G>T	ENSP00000472300.1:p.Lys330Asn
ENST00000600573.5:c.937-129G>T	ENSP00000469826.1:n.937-129G>T
ENST00000600910.5:c.990G>T	ENSP00000473137.1:p.Lys330Asn
ENST00000625216.2:c.168G>T	ENSP00000486898.1:p.Lys56Asn
ENST00000627232.2:c.910G>T	ENSP00000486037.1:n.910G>T
ENST00000627317.1:c.611G>T
ENST00000629179.1:n.761G>T
ENST00000631020.2:c.882G>T	ENSP00000486707.1:p.Lys294Asn
NM_007254.3:c.990G>T	NP_009185.2:p.Lys330Asn
NM_007254.4:c.990G>T MANE Select	NP_009185.2:p.Lys330Asn