Canonical Allele Identifier: CA406933256

Gene: PNKP

Linked Data

• dbSNP Id: rs1241973785
• gnomAD v3: 19-49861681-G-C
• gnomAD v4: 19-49861681-G-C
• MyVariant Identifiers: chr19:g.50364938G>C (hg19) ; chr19:g.49861681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861681G>C , CM000681.2:g.49861681G>C	GRCh38
NC_000019.9:g.50364938G>C , CM000681.1:g.50364938G>C	GRCh37
NC_000019.8:g.55056750G>C	NCBI36
NG_027717.1:g.10885C>G
NG_050666.1:g.17838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1313C>G MANE Select	ENSP00000323511.2:p.Ala438Gly
ENST00000322344.7:c.1313C>G	ENSP00000323511.2:p.Ala438Gly
ENST00000593946.5:c.*1240C>G	ENSP00000468896.1:n.*1240C>G
ENST00000594661.5:n.1814C>G
ENST00000595081.5:n.216C>G
ENST00000596014.5:c.1313C>G	ENSP00000472300.1:p.Ala438Gly
ENST00000597965.2:c.20C>G	ENSP00000471097.2:p.Ala7Gly
ENST00000599454.5:n.233C>G
ENST00000600573.5:c.1220C>G	ENSP00000469826.1:p.Ala407Gly
ENST00000600910.5:c.1203C>G	ENSP00000473137.1:p.Cys401Trp
ENST00000601816.3:n.288C>G
ENST00000625216.2:c.394C>G	ENSP00000486898.1:n.394C>G
ENST00000627232.2:c.1233C>G	ENSP00000486037.1:n.1233C>G
ENST00000631020.2:c.1205C>G	ENSP00000486707.1:p.Ala402Gly
NM_007254.3:c.1313C>G	NP_009185.2:p.Ala438Gly
NM_007254.4:c.1313C>G MANE Select	NP_009185.2:p.Ala438Gly