Canonical Allele Identifier: CA7082058

Gene: PNP

Linked Data

• ClinVar Variation Id: 373674
• ClinVar RCV Id: RCV000413493
• dbSNP Id: rs775945427
• ExAC: 14:20942717 G / A
• gnomAD v2: 14-20942717-G-A
• gnomAD v3: 14-20474558-G-A
• gnomAD v4: 14-20474558-G-A
• MyVariant Identifiers: chr14:g.20942717G>A (hg19) ; chr14:g.20474558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474558G>A , CM000676.2:g.20474558G>A	GRCh38
NC_000014.8:g.20942717G>A , CM000676.1:g.20942717G>A	GRCh37
NC_000014.7:g.20012557G>A	NCBI36
NG_009631.1:g.10176G>A , LRG_91:g.10176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.385G>A	ENSP00000452421.2:p.Gly129Arg
ENST00000556293.6:n.2381G>A
ENST00000556754.2:n.3324G>A
ENST00000557229.6:n.387G>A
ENST00000697613.1:c.268G>A	ENSP00000513359.1:p.Gly90Arg
ENST00000697614.1:c.31G>A	ENSP00000513360.1:p.Gly11Arg
ENST00000697615.1:n.786G>A
ENST00000361505.10:c.268G>A MANE Select	ENSP00000354532.6:p.Gly90Arg
ENST00000361505.9:c.268G>A	ENSP00000354532.5:p.Gly90Arg
ENST00000553418.5:c.268G>A	ENSP00000450663.1:p.Gly90Arg
ENST00000553591.1:c.385G>A	ENSP00000452421.1:p.Gly129Arg
ENST00000554056.5:n.379G>A
ENST00000554065.1:c.31G>A	ENSP00000451108.1:p.Gly11Arg
ENST00000556754.1:n.1175G>A
ENST00000557229.5:n.387G>A
NM_000270.3:c.268G>A , LRG_91t1:c.268G>A	NP_000261.2:p.Gly90Arg
NM_000270.4:c.268G>A MANE Select	NP_000261.2:p.Gly90Arg