Canonical Allele Identifier: CA2122043949
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472504G= , CM000676.2:g.20472504G= GRCh38
NC_000014.8:g.20940663G= , CM000676.1:g.20940663G= GRCh37
NC_000014.7:g.20010503G= NCBI36
NG_009631.1:g.8122G= , LRG_91:g.8122G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.298+27G= ENSP00000452421.2:n.298+27G=
ENST00000556293.6:n.327G=
ENST00000556754.2:n.1270G=
ENST00000557229.6:n.300+27G=
ENST00000697613.1:c.181+27G= ENSP00000513359.1:n.181+27G=
ENST00000697614.1:c.-57+27G= ENSP00000513360.1:n.-57+27G=
ENST00000697615.1:n.699+27G=
ENST00000361505.10:c.181+27G= MANE Select ENSP00000354532.6:n.181+27G=
ENST00000361505.9:c.181+27G= ENSP00000354532.5:n.181+27G=
ENST00000553418.5:c.181+27G= ENSP00000450663.1:n.181+27G=
ENST00000553591.1:c.298+27G= ENSP00000452421.1:n.298+27G=
ENST00000554056.5:n.292+27G=
ENST00000554065.1:c.-57+27G= ENSP00000451108.1:n.-57+27G=
ENST00000556293.5:n.327G=
ENST00000557229.5:n.300+27G=
NM_000270.3:c.181+27G= , LRG_91t1:c.181+27G= NP_000261.2:n.181+27G=
NM_000270.4:c.181+27G= MANE Select NP_000261.2:n.181+27G=