Canonical Allele Identifier: CA406932850

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364749A>C (hg19) ; chr19:g.49861492A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861492A>C , CM000681.2:g.49861492A>C	GRCh38
NC_000019.9:g.50364749A>C , CM000681.1:g.50364749A>C	GRCh37
NC_000019.8:g.55056561A>C	NCBI36
NG_027717.1:g.11074T>G
NG_050666.1:g.17649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1405T>G MANE Select	ENSP00000323511.2:p.Ser469Ala
ENST00000636840.1:c.59+116T>G
ENST00000640501.1:c.11T>G
ENST00000322344.7:c.1405T>G	ENSP00000323511.2:p.Ser469Ala
ENST00000593946.5:c.*1332T>G	ENSP00000468896.1:n.*1332T>G
ENST00000594661.5:n.1906T>G
ENST00000595081.5:n.308T>G
ENST00000596014.5:c.1405T>G	ENSP00000472300.1:p.Ser469Ala
ENST00000597965.2:c.112T>G	ENSP00000471097.2:p.Ser38Ala
ENST00000599454.5:n.325T>G
ENST00000600573.5:c.1312T>G	ENSP00000469826.1:p.Ser438Ala
ENST00000600910.5:c.1295T>G	ENSP00000473137.1:p.Leu432Arg
ENST00000601816.3:n.477T>G
ENST00000625216.2:c.486T>G	ENSP00000486898.1:n.486T>G
ENST00000627232.2:c.1325T>G	ENSP00000486037.1:n.1325T>G
ENST00000631020.2:c.1297T>G	ENSP00000486707.1:p.Ser433Ala
NM_007254.3:c.1405T>G	NP_009185.2:p.Ser469Ala
NM_007254.4:c.1405T>G MANE Select	NP_009185.2:p.Ser469Ala