Canonical Allele Identifier: CA406878688

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365304G>C (hg19) ; chr19:g.49862047G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862047G>C , CM000681.2:g.49862047G>C	GRCh38
NC_000019.9:g.50365304G>C , CM000681.1:g.50365304G>C	GRCh37
NC_000019.8:g.55057116G>C	NCBI36
NG_027717.1:g.10519C>G
NG_050666.1:g.18204G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1185C>G MANE Select	ENSP00000323511.2:p.Asn395Lys
ENST00000322344.7:c.1185C>G	ENSP00000323511.2:p.Asn395Lys
ENST00000593706.3:n.619C>G
ENST00000593946.5:c.*1112C>G	ENSP00000468896.1:n.*1112C>G
ENST00000594661.5:n.1686C>G
ENST00000596014.5:c.1185C>G	ENSP00000472300.1:p.Asn395Lys
ENST00000599454.5:n.29C>G
ENST00000600573.5:c.1092C>G	ENSP00000469826.1:p.Asn364Lys
ENST00000600910.5:c.1185C>G	ENSP00000473137.1:p.Asn395Lys
ENST00000601816.3:n.84C>G
ENST00000625216.2:c.266C>G	ENSP00000486898.1:n.266C>G
ENST00000627232.2:c.1105C>G	ENSP00000486037.1:n.1105C>G
ENST00000631020.2:c.1077C>G	ENSP00000486707.1:p.Asn359Lys
NM_007254.3:c.1185C>G	NP_009185.2:p.Asn395Lys
NM_007254.4:c.1185C>G MANE Select	NP_009185.2:p.Asn395Lys