Canonical Allele Identifier: CA883145061

Gene: PNKP

Linked Data

• dbSNP Id: rs375278755
• gnomAD v3: 19-49861399-G-A
• gnomAD v4: 19-49861399-G-A
• MyVariant Identifiers: chr19:g.50364656G>A (hg19) ; chr19:g.49861399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861399G>A , CM000681.2:g.49861399G>A	GRCh38
NC_000019.9:g.50364656G>A , CM000681.1:g.50364656G>A	GRCh37
NC_000019.8:g.55056468G>A	NCBI36
NG_027717.1:g.11167C>T
NG_050666.1:g.17556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-34C>T MANE Select	ENSP00000323511.2:n.1449-34C>T
ENST00000636840.1:c.59+209C>T
ENST00000640501.1:c.55-38C>T
ENST00000322344.7:c.1449-34C>T	ENSP00000323511.2:n.1449-34C>T
ENST00000593946.5:c.*1376-34C>T	ENSP00000468896.1:n.*1376-34C>T
ENST00000594661.5:n.1950-34C>T
ENST00000595081.5:n.352-34C>T
ENST00000596014.5:c.1449-34C>T	ENSP00000472300.1:n.1449-34C>T
ENST00000597965.2:c.205C>T	ENSP00000471097.2:n.205C>T
ENST00000599454.5:n.369-34C>T
ENST00000600573.5:c.1356-34C>T	ENSP00000469826.1:n.1356-34C>T
ENST00000600910.5:c.1339-34C>T	ENSP00000473137.1:n.1339-34C>T
ENST00000601816.3:n.521-34C>T
ENST00000625216.2:c.530-34C>T	ENSP00000486898.1:n.530-34C>T
ENST00000627232.2:c.1369-34C>T	ENSP00000486037.1:n.1369-34C>T
ENST00000631020.2:c.1341-34C>T	ENSP00000486707.1:n.1341-34C>T
NM_007254.3:c.1449-34C>T	NP_009185.2:n.1449-34C>T
NM_007254.4:c.1449-34C>T MANE Select	NP_009185.2:n.1449-34C>T