Canonical Allele Identifier: CA406933548

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50365092G>C (hg19) ; chr19:g.49861835G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861835G>C , CM000681.2:g.49861835G>C	GRCh38
NC_000019.9:g.50365092G>C , CM000681.1:g.50365092G>C	GRCh37
NC_000019.8:g.55056904G>C	NCBI36
NG_027717.1:g.10731C>G
NG_050666.1:g.17992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1235C>G MANE Select	ENSP00000323511.2:p.Ala412Gly
ENST00000322344.7:c.1235C>G	ENSP00000323511.2:p.Ala412Gly
ENST00000593706.3:n.831C>G
ENST00000593946.5:c.*1162C>G	ENSP00000468896.1:n.*1162C>G
ENST00000594661.5:n.1736C>G
ENST00000595081.5:n.62C>G
ENST00000596014.5:c.1235C>G	ENSP00000472300.1:p.Ala412Gly
ENST00000599454.5:n.79C>G
ENST00000600573.5:c.1142C>G	ENSP00000469826.1:p.Ala381Gly
ENST00000600910.5:c.1189-140C>G	ENSP00000473137.1:n.1189-140C>G
ENST00000601816.3:n.134C>G
ENST00000625216.2:c.316C>G	ENSP00000486898.1:n.316C>G
ENST00000627232.2:c.1155C>G	ENSP00000486037.1:n.1155C>G
ENST00000631020.2:c.1127C>G	ENSP00000486707.1:p.Ala376Gly
NM_007254.3:c.1235C>G	NP_009185.2:p.Ala412Gly
NM_007254.4:c.1235C>G MANE Select	NP_009185.2:p.Ala412Gly