Canonical Allele Identifier: CA406932870

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861497-G-C
• MyVariant Identifiers: chr19:g.50364754G>C (hg19) ; chr19:g.49861497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861497G>C , CM000681.2:g.49861497G>C	GRCh38
NC_000019.9:g.50364754G>C , CM000681.1:g.50364754G>C	GRCh37
NC_000019.8:g.55056566G>C	NCBI36
NG_027717.1:g.11069C>G
NG_050666.1:g.17654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1400C>G MANE Select	ENSP00000323511.2:p.Thr467Arg
ENST00000636840.1:c.59+111C>G
ENST00000640501.1:c.6C>G
ENST00000322344.7:c.1400C>G	ENSP00000323511.2:p.Thr467Arg
ENST00000593946.5:c.*1327C>G	ENSP00000468896.1:n.*1327C>G
ENST00000594661.5:n.1901C>G
ENST00000595081.5:n.303C>G
ENST00000596014.5:c.1400C>G	ENSP00000472300.1:p.Thr467Arg
ENST00000597965.2:c.107C>G	ENSP00000471097.2:p.Thr36Arg
ENST00000599454.5:n.320C>G
ENST00000600573.5:c.1307C>G	ENSP00000469826.1:p.Thr436Arg
ENST00000600910.5:c.1290C>G	ENSP00000473137.1:p.Asp430Glu
ENST00000601816.3:n.472C>G
ENST00000625216.2:c.481C>G	ENSP00000486898.1:n.481C>G
ENST00000627232.2:c.1320C>G	ENSP00000486037.1:n.1320C>G
ENST00000631020.2:c.1292C>G	ENSP00000486707.1:p.Thr431Arg
NM_007254.3:c.1400C>G	NP_009185.2:p.Thr467Arg
NM_007254.4:c.1400C>G MANE Select	NP_009185.2:p.Thr467Arg