Canonical Allele Identifier: CA406932913

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364766A>C (hg19) ; chr19:g.49861509A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861509A>C , CM000681.2:g.49861509A>C	GRCh38
NC_000019.9:g.50364766A>C , CM000681.1:g.50364766A>C	GRCh37
NC_000019.8:g.55056578A>C	NCBI36
NG_027717.1:g.11057T>G
NG_050666.1:g.17666A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1388T>G MANE Select	ENSP00000323511.2:p.Phe463Cys
ENST00000636840.1:c.59+99T>G
ENST00000322344.7:c.1388T>G	ENSP00000323511.2:p.Phe463Cys
ENST00000593946.5:c.*1315T>G	ENSP00000468896.1:n.*1315T>G
ENST00000594661.5:n.1889T>G
ENST00000595081.5:n.291T>G
ENST00000596014.5:c.1388T>G	ENSP00000472300.1:p.Phe463Cys
ENST00000597965.2:c.95T>G	ENSP00000471097.2:p.Phe32Cys
ENST00000599454.5:n.308T>G
ENST00000600573.5:c.1295T>G	ENSP00000469826.1:p.Phe432Cys
ENST00000600910.5:c.1278T>G	ENSP00000473137.1:p.Val426=
ENST00000601816.3:n.460T>G
ENST00000625216.2:c.469T>G	ENSP00000486898.1:n.469T>G
ENST00000627232.2:c.1308T>G	ENSP00000486037.1:n.1308T>G
ENST00000631020.2:c.1280T>G	ENSP00000486707.1:p.Phe427Cys
NM_007254.3:c.1388T>G	NP_009185.2:p.Phe463Cys
NM_007254.4:c.1388T>G MANE Select	NP_009185.2:p.Phe463Cys