Canonical Allele Identifier: CA406889103

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50368460C>G (hg19) ; chr19:g.49865203C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49865203C>G , CM000681.2:g.49865203C>G	GRCh38
NC_000019.9:g.50368460C>G , CM000681.1:g.50368460C>G	GRCh37
NC_000019.8:g.55060272C>G	NCBI36
NG_027717.1:g.7363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.422G>C MANE Select	ENSP00000323511.2:p.Arg141Pro
ENST00000636214.1:c.238G>C	ENSP00000489983.1:p.Gly80Arg
ENST00000322344.7:c.422G>C	ENSP00000323511.2:p.Arg141Pro
ENST00000593946.5:c.*349G>C	ENSP00000468896.1:n.*349G>C
ENST00000594661.5:n.836G>C
ENST00000596014.5:c.422G>C	ENSP00000472300.1:p.Arg141Pro
ENST00000596726.3:c.422G>C	ENSP00000470887.2:p.Arg141Pro
ENST00000599543.3:c.422G>C	ENSP00000469848.2:p.Arg141Pro
ENST00000600573.5:c.422G>C	ENSP00000469826.1:p.Arg141Pro
ENST00000600910.5:c.422G>C	ENSP00000473137.1:p.Arg141Pro
ENST00000625299.1:n.340G>C
ENST00000627232.2:c.422G>C	ENSP00000486037.1:p.Arg141Pro
ENST00000627317.1:c.181G>C
ENST00000629179.1:n.183-800G>C
ENST00000631020.2:c.422G>C	ENSP00000486707.1:p.Arg141Pro
NM_007254.3:c.422G>C	NP_009185.2:p.Arg141Pro
NM_007254.4:c.422G>C MANE Select	NP_009185.2:p.Arg141Pro