Canonical Allele Identifier: CA173307

Gene: PNKP

Linked Data

• ClinVar Variation Id: 159796
• ClinVar RCV Id: RCV000147360 ; RCV000829947 ; RCV001789201 ; RCV001789202 ; RCV001789203
• dbSNP Id: rs1290649
• ExAC: 19:50368361 T / A
• gnomAD v2: 19-50368361-T-A
• gnomAD v3: 19-49865104-T-A
• gnomAD v4: 19-49865104-T-A
• MyVariant Identifiers: chr19:g.50368361T>A (hg19) ; chr19:g.49865104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49865104T>A , CM000681.2:g.49865104T>A	GRCh38
NC_000019.9:g.50368361T>A , CM000681.1:g.50368361T>A	GRCh37
NC_000019.8:g.55060173T>A	NCBI36
NG_027717.1:g.7462A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.498+23A>T MANE Select	ENSP00000323511.2:n.498+23A>T
ENST00000636214.1:c.*35+23A>T	ENSP00000489983.1:n.*35+23A>T
ENST00000322344.7:c.498+23A>T	ENSP00000323511.2:n.498+23A>T
ENST00000593946.5:c.*425+23A>T	ENSP00000468896.1:n.*425+23A>T
ENST00000594661.5:n.912+23A>T
ENST00000596014.5:c.498+23A>T	ENSP00000472300.1:n.498+23A>T
ENST00000596726.3:c.498+23A>T	ENSP00000470887.2:n.498+23A>T
ENST00000599543.3:c.498+23A>T	ENSP00000469848.2:n.498+23A>T
ENST00000600573.5:c.498+23A>T	ENSP00000469826.1:n.498+23A>T
ENST00000600910.5:c.498+23A>T	ENSP00000473137.1:n.498+23A>T
ENST00000625299.1:n.416+23A>T
ENST00000627232.2:c.498+23A>T	ENSP00000486037.1:n.498+23A>T
ENST00000627317.1:c.257+23A>T
ENST00000629179.1:n.183-701A>T
ENST00000631020.2:c.498+23A>T	ENSP00000486707.1:n.498+23A>T
NM_007254.3:c.498+23A>T	NP_009185.2:n.498+23A>T
NM_007254.4:c.498+23A>T MANE Select	NP_009185.2:n.498+23A>T