Canonical Allele Identifier: CA485161655

Gene: PNP

Linked Data

• ClinVar Variation Id: 644257
• ClinVar RCV Id: RCV000798138
• dbSNP Id: rs1317104356
• gnomAD v2: 14-20940533-A-G
• gnomAD v4: 14-20472374-A-G
• MyVariant Identifiers: chr14:g.20940533A>G (hg19) ; chr14:g.20472374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472374A>G , CM000676.2:g.20472374A>G	GRCh38
NC_000014.8:g.20940533A>G , CM000676.1:g.20940533A>G	GRCh37
NC_000014.7:g.20010373A>G	NCBI36
NG_009631.1:g.7992A>G , LRG_91:g.7992A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.195A>G	ENSP00000452421.2:p.Gln65=
ENST00000556293.6:n.197A>G
ENST00000556754.2:n.1140A>G
ENST00000557229.6:n.197A>G
ENST00000697613.1:c.78A>G	ENSP00000513359.1:p.Gln26=
ENST00000697614.1:c.-160A>G	ENSP00000513360.1:n.-160A>G
ENST00000697615.1:n.596A>G
ENST00000361505.10:c.78A>G MANE Select	ENSP00000354532.6:p.Gln26=
ENST00000361505.9:c.78A>G	ENSP00000354532.5:p.Gln26=
ENST00000553418.5:c.78A>G	ENSP00000450663.1:p.Gln26=
ENST00000553591.1:c.195A>G	ENSP00000452421.1:p.Gln65=
ENST00000554056.5:n.189A>G
ENST00000554065.1:c.-160A>G	ENSP00000451108.1:n.-160A>G
ENST00000556293.5:n.197A>G
ENST00000557229.5:n.197A>G
NM_000270.3:c.78A>G , LRG_91t1:c.78A>G	NP_000261.2:p.Gln26=
NM_000270.4:c.78A>G MANE Select	NP_000261.2:p.Gln26=