Canonical Allele Identifier: CA9586388

Gene: PNKP

Linked Data

• ClinVar Variation Id: 848728
• ClinVar RCV Id: RCV001052548
• dbSNP Id: rs769109631
• ExAC: 19:50364754 G / T
• gnomAD v2: 19-50364754-G-T
• gnomAD v4: 19-49861497-G-T
• MyVariant Identifiers: chr19:g.50364754G>T (hg19) ; chr19:g.49861497G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861497G>T , CM000681.2:g.49861497G>T	GRCh38
NC_000019.9:g.50364754G>T , CM000681.1:g.50364754G>T	GRCh37
NC_000019.8:g.55056566G>T	NCBI36
NG_027717.1:g.11069C>A
NG_050666.1:g.17654G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1400C>A MANE Select	ENSP00000323511.2:p.Thr467Lys
ENST00000636840.1:c.59+111C>A
ENST00000640501.1:c.6C>A
ENST00000322344.7:c.1400C>A	ENSP00000323511.2:p.Thr467Lys
ENST00000593946.5:c.*1327C>A	ENSP00000468896.1:n.*1327C>A
ENST00000594661.5:n.1901C>A
ENST00000595081.5:n.303C>A
ENST00000596014.5:c.1400C>A	ENSP00000472300.1:p.Thr467Lys
ENST00000597965.2:c.107C>A	ENSP00000471097.2:p.Thr36Lys
ENST00000599454.5:n.320C>A
ENST00000600573.5:c.1307C>A	ENSP00000469826.1:p.Thr436Lys
ENST00000600910.5:c.1290C>A	ENSP00000473137.1:p.Asp430Glu
ENST00000601816.3:n.472C>A
ENST00000625216.2:c.481C>A	ENSP00000486898.1:n.481C>A
ENST00000627232.2:c.1320C>A	ENSP00000486037.1:n.1320C>A
ENST00000631020.2:c.1292C>A	ENSP00000486707.1:p.Thr431Lys
NM_007254.3:c.1400C>A	NP_009185.2:p.Thr467Lys
NM_007254.4:c.1400C>A MANE Select	NP_009185.2:p.Thr467Lys