Canonical Allele Identifier: CA406932830

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861487-A-G
• MyVariant Identifiers: chr19:g.50364744A>G (hg19) ; chr19:g.49861487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861487A>G , CM000681.2:g.49861487A>G	GRCh38
NC_000019.9:g.50364744A>G , CM000681.1:g.50364744A>G	GRCh37
NC_000019.8:g.55056556A>G	NCBI36
NG_027717.1:g.11079T>C
NG_050666.1:g.17644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1410T>C MANE Select	ENSP00000323511.2:p.Ser470=
ENST00000636840.1:c.59+121T>C
ENST00000640501.1:c.16T>C
ENST00000322344.7:c.1410T>C	ENSP00000323511.2:p.Ser470=
ENST00000593946.5:c.*1337T>C	ENSP00000468896.1:n.*1337T>C
ENST00000594661.5:n.1911T>C
ENST00000595081.5:n.313T>C
ENST00000596014.5:c.1410T>C	ENSP00000472300.1:p.Ser470=
ENST00000597965.2:c.117T>C	ENSP00000471097.2:p.Ser39=
ENST00000599454.5:n.330T>C
ENST00000600573.5:c.1317T>C	ENSP00000469826.1:p.Ser439=
ENST00000600910.5:c.1300T>C	ENSP00000473137.1:p.Ser434Pro
ENST00000601816.3:n.482T>C
ENST00000625216.2:c.491T>C	ENSP00000486898.1:n.491T>C
ENST00000627232.2:c.1330T>C	ENSP00000486037.1:n.1330T>C
ENST00000631020.2:c.1302T>C	ENSP00000486707.1:p.Ser434=
NM_007254.3:c.1410T>C	NP_009185.2:p.Ser470=
NM_007254.4:c.1410T>C MANE Select	NP_009185.2:p.Ser470=