Canonical Allele Identifier: CA123669

Gene: PNP

Linked Data

• ClinVar Variation Id: 13988
• ClinVar RCV Id: RCV000015025
• dbSNP Id: rs104894453
• ExAC: 14:20942714 G / A
• gnomAD v2: 14-20942714-G-A
• gnomAD v3: 14-20474555-G-A
• gnomAD v4: 14-20474555-G-A
• MyVariant Identifiers: chr14:g.20942714G>A (hg19) ; chr14:g.20474555G>A (hg38)
• PubMed: PMID:3029074

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474555G>A , CM000676.2:g.20474555G>A	GRCh38
NC_000014.8:g.20942714G>A , CM000676.1:g.20942714G>A	GRCh37
NC_000014.7:g.20012554G>A	NCBI36
NG_009631.1:g.10173G>A , LRG_91:g.10173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.382G>A	ENSP00000452421.2:p.Glu128Lys
ENST00000556293.6:n.2378G>A
ENST00000556754.2:n.3321G>A
ENST00000557229.6:n.384G>A
ENST00000697613.1:c.265G>A	ENSP00000513359.1:p.Glu89Lys
ENST00000697614.1:c.28G>A	ENSP00000513360.1:p.Glu10Lys
ENST00000697615.1:n.783G>A
ENST00000361505.10:c.265G>A MANE Select	ENSP00000354532.6:p.Glu89Lys
ENST00000361505.9:c.265G>A	ENSP00000354532.5:p.Glu89Lys
ENST00000553418.5:c.265G>A	ENSP00000450663.1:p.Glu89Lys
ENST00000553591.1:c.382G>A	ENSP00000452421.1:p.Glu128Lys
ENST00000554056.5:n.376G>A
ENST00000554065.1:c.28G>A	ENSP00000451108.1:p.Glu10Lys
ENST00000556754.1:n.1172G>A
ENST00000557229.5:n.384G>A
NM_000270.3:c.265G>A , LRG_91t1:c.265G>A	NP_000261.2:p.Glu89Lys
NM_000270.4:c.265G>A MANE Select	NP_000261.2:p.Glu89Lys