Canonical Allele Identifier: CA123682
Gene: PNP HGNC NCBI

Linked Data

ClinVar Variation Id: 13995
ClinVar RCV Id: RCV000015032
dbSNP Id: rs104894455

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472366C>T , CM000676.2:g.20472366C>T GRCh38
NC_000014.8:g.20940525C>T , CM000676.1:g.20940525C>T GRCh37
NC_000014.7:g.20010365C>T NCBI36
NG_009631.1:g.7984C>T , LRG_91:g.7984C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.187C>T ENSP00000452421.2:p.Arg63Ter
ENST00000556293.6:n.189C>T
ENST00000556754.2:n.1132C>T
ENST00000557229.6:n.189C>T
ENST00000697613.1:c.70C>T ENSP00000513359.1:p.Arg24Ter
ENST00000697614.1:c.-168C>T ENSP00000513360.1:n.-168C>T
ENST00000697615.1:n.588C>T
ENST00000361505.10:c.70C>T MANE Select ENSP00000354532.6:p.Arg24Ter
ENST00000361505.9:c.70C>T ENSP00000354532.5:p.Arg24Ter
ENST00000553418.5:c.70C>T ENSP00000450663.1:p.Arg24Ter
ENST00000553591.1:c.187C>T ENSP00000452421.1:p.Arg63Ter
ENST00000554056.5:n.181C>T
ENST00000554065.1:c.-168C>T ENSP00000451108.1:n.-168C>T
ENST00000556293.5:n.189C>T
ENST00000557229.5:n.189C>T
NM_000270.3:c.70C>T , LRG_91t1:c.70C>T NP_000261.2:p.Arg24Ter
NM_000270.4:c.70C>T MANE Select NP_000261.2:p.Arg24Ter