Canonical Allele Identifier: CA406932838

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364746A>C (hg19) ; chr19:g.49861489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861489A>C , CM000681.2:g.49861489A>C	GRCh38
NC_000019.9:g.50364746A>C , CM000681.1:g.50364746A>C	GRCh37
NC_000019.8:g.55056558A>C	NCBI36
NG_027717.1:g.11077T>G
NG_050666.1:g.17646A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1408T>G MANE Select	ENSP00000323511.2:p.Ser470Ala
ENST00000636840.1:c.59+119T>G
ENST00000640501.1:c.14T>G
ENST00000322344.7:c.1408T>G	ENSP00000323511.2:p.Ser470Ala
ENST00000593946.5:c.*1335T>G	ENSP00000468896.1:n.*1335T>G
ENST00000594661.5:n.1909T>G
ENST00000595081.5:n.311T>G
ENST00000596014.5:c.1408T>G	ENSP00000472300.1:p.Ser470Ala
ENST00000597965.2:c.115T>G	ENSP00000471097.2:p.Ser39Ala
ENST00000599454.5:n.328T>G
ENST00000600573.5:c.1315T>G	ENSP00000469826.1:p.Ser439Ala
ENST00000600910.5:c.1298T>G	ENSP00000473137.1:p.Leu433Arg
ENST00000601816.3:n.480T>G
ENST00000625216.2:c.489T>G	ENSP00000486898.1:n.489T>G
ENST00000627232.2:c.1328T>G	ENSP00000486037.1:n.1328T>G
ENST00000631020.2:c.1300T>G	ENSP00000486707.1:p.Ser434Ala
NM_007254.3:c.1408T>G	NP_009185.2:p.Ser470Ala
NM_007254.4:c.1408T>G MANE Select	NP_009185.2:p.Ser470Ala