Canonical Allele Identifier: CA406881057

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862415-G-C
• MyVariant Identifiers: chr19:g.50365672G>C (hg19) ; chr19:g.49862415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862415G>C , CM000681.2:g.49862415G>C	GRCh38
NC_000019.9:g.50365672G>C , CM000681.1:g.50365672G>C	GRCh37
NC_000019.8:g.55057484G>C	NCBI36
NG_027717.1:g.10151C>G
NG_050666.1:g.18572G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.985C>G MANE Select	ENSP00000323511.2:p.Leu329Val
ENST00000322344.7:c.985C>G	ENSP00000323511.2:p.Leu329Val
ENST00000593706.3:n.340C>G
ENST00000593946.5:c.*912C>G	ENSP00000468896.1:n.*912C>G
ENST00000594661.5:n.1486C>G
ENST00000596014.5:c.985C>G	ENSP00000472300.1:p.Leu329Val
ENST00000600573.5:c.936+123C>G	ENSP00000469826.1:n.936+123C>G
ENST00000600910.5:c.985C>G	ENSP00000473137.1:p.Leu329Val
ENST00000625216.2:c.163C>G	ENSP00000486898.1:p.Leu55Val
ENST00000627232.2:c.905C>G	ENSP00000486037.1:n.905C>G
ENST00000627317.1:c.606C>G
ENST00000629179.1:n.756C>G
ENST00000631020.2:c.877C>G	ENSP00000486707.1:p.Leu293Val
NM_007254.3:c.985C>G	NP_009185.2:p.Leu329Val
NM_007254.4:c.985C>G MANE Select	NP_009185.2:p.Leu329Val