Canonical Allele Identifier: CA406933168

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861657-C-A
• MyVariant Identifiers: chr19:g.50364914C>A (hg19) ; chr19:g.49861657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861657C>A , CM000681.2:g.49861657C>A	GRCh38
NC_000019.9:g.50364914C>A , CM000681.1:g.50364914C>A	GRCh37
NC_000019.8:g.55056726C>A	NCBI36
NG_027717.1:g.10909G>T
NG_050666.1:g.17814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1337G>T MANE Select	ENSP00000323511.2:p.Arg446Leu
ENST00000636840.1:c.10G>T
ENST00000322344.7:c.1337G>T	ENSP00000323511.2:p.Arg446Leu
ENST00000593946.5:c.*1264G>T	ENSP00000468896.1:n.*1264G>T
ENST00000594661.5:n.1838G>T
ENST00000595081.5:n.240G>T
ENST00000596014.5:c.1337G>T	ENSP00000472300.1:p.Arg446Leu
ENST00000597965.2:c.44G>T	ENSP00000471097.2:p.Arg15Leu
ENST00000599454.5:n.257G>T
ENST00000600573.5:c.1244G>T	ENSP00000469826.1:p.Arg415Leu
ENST00000600910.5:c.1227G>T	ENSP00000473137.1:p.Pro409=
ENST00000601816.3:n.312G>T
ENST00000625216.2:c.418G>T	ENSP00000486898.1:n.418G>T
ENST00000627232.2:c.1257G>T	ENSP00000486037.1:n.1257G>T
ENST00000631020.2:c.1229G>T	ENSP00000486707.1:p.Arg410Leu
NM_007254.3:c.1337G>T	NP_009185.2:p.Arg446Leu
NM_007254.4:c.1337G>T MANE Select	NP_009185.2:p.Arg446Leu