Canonical Allele Identifier: CA406933263

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364940A>C (hg19) ; chr19:g.49861683A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861683A>C , CM000681.2:g.49861683A>C	GRCh38
NC_000019.9:g.50364940A>C , CM000681.1:g.50364940A>C	GRCh37
NC_000019.8:g.55056752A>C	NCBI36
NG_027717.1:g.10883T>G
NG_050666.1:g.17840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1311T>G MANE Select	ENSP00000323511.2:p.Cys437Trp
ENST00000322344.7:c.1311T>G	ENSP00000323511.2:p.Cys437Trp
ENST00000593946.5:c.*1238T>G	ENSP00000468896.1:n.*1238T>G
ENST00000594661.5:n.1812T>G
ENST00000595081.5:n.214T>G
ENST00000596014.5:c.1311T>G	ENSP00000472300.1:p.Cys437Trp
ENST00000597965.2:c.18T>G	ENSP00000471097.2:p.Cys6Trp
ENST00000599454.5:n.231T>G
ENST00000600573.5:c.1218T>G	ENSP00000469826.1:p.Cys406Trp
ENST00000600910.5:c.1201T>G	ENSP00000473137.1:p.Cys401Gly
ENST00000601816.3:n.286T>G
ENST00000625216.2:c.392T>G	ENSP00000486898.1:n.392T>G
ENST00000627232.2:c.1231T>G	ENSP00000486037.1:n.1231T>G
ENST00000631020.2:c.1203T>G	ENSP00000486707.1:p.Cys401Trp
NM_007254.3:c.1311T>G	NP_009185.2:p.Cys437Trp
NM_007254.4:c.1311T>G MANE Select	NP_009185.2:p.Cys437Trp