Canonical Allele Identifier: CA7082090

Gene: PNP

Linked Data

• ClinVar Variation Id: 505116
• ClinVar RCV Id: RCV000606768 ; RCV003479170
• dbSNP Id: rs1026474882
• ExAC: 14:20942914 G / A
• gnomAD v2: 14-20942914-G-A
• gnomAD v3: 14-20474755-G-A
• gnomAD v4: 14-20474755-G-A
• MyVariant Identifiers: chr14:g.20942914G>A (hg19) ; chr14:g.20942914_20942927delinsAGATTGTTTGCTTC (hg19) ; chr14:g.20474755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474755G>A , CM000676.2:g.20474755G>A	GRCh38
NC_000014.8:g.20942914G>A , CM000676.1:g.20942914G>A	GRCh37
NC_000014.7:g.20012754G>A	NCBI36
NG_009631.1:g.10373G>A , LRG_91:g.10373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.403-18G>A	ENSP00000452421.2:n.403-18G>A
ENST00000556293.6:n.2578G>A
ENST00000556754.2:n.3521G>A
ENST00000557229.6:n.584G>A
ENST00000697613.1:c.286-18G>A	ENSP00000513359.1:n.286-18G>A
ENST00000697614.1:c.49-18G>A	ENSP00000513360.1:n.49-18G>A
ENST00000697615.1:n.983G>A
ENST00000361505.10:c.286-18G>A MANE Select	ENSP00000354532.6:n.286-18G>A
ENST00000361505.9:c.286-18G>A	ENSP00000354532.5:n.286-18G>A
ENST00000553591.1:c.403-18G>A	ENSP00000452421.1:n.403-18G>A
ENST00000554056.5:n.576G>A
ENST00000554065.1:c.49-18G>A	ENSP00000451108.1:n.49-18G>A
ENST00000556754.1:n.1372G>A
ENST00000557229.5:n.584G>A
NM_000270.3:c.286-18G>A , LRG_91t1:c.286-18G>A	NP_000261.2:n.286-18G>A
NM_000270.4:c.286-18G>A MANE Select	NP_000261.2:n.286-18G>A