Canonical Allele Identifier: CA2122044870
Community Standard Title: NM_000270.4(PNP):c.265G= (p.Glu89=)
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20474555G= , CM000676.2:g.20474555G= GRCh38
NC_000014.8:g.20942714G= , CM000676.1:g.20942714G= GRCh37
NC_000014.7:g.20012554G= NCBI36
NG_009631.1:g.10173G= , LRG_91:g.10173G=

Transcript Alleles

HGVS Amino-acid Change
NM_000270.4:c.265G= MANE Select NP_000261.2:p.Glu89=
ENST00000361505.10:c.265G= MANE Select ENSP00000354532.6:p.Glu89=
NM_000270.3:c.265G= , LRG_91t1:c.265G= NP_000261.2:p.Glu89=
ENST00000361505.9:c.265G= ENSP00000354532.5:p.Glu89=
ENST00000553418.5:c.265G= ENSP00000450663.1:p.Glu89=
ENST00000553591.1:c.382G= ENSP00000452421.1:p.Glu128=
ENST00000553591.2:c.382G= ENSP00000452421.2:p.Glu128=
ENST00000554056.5:n.376G=
ENST00000554065.1:c.28G= ENSP00000451108.1:p.Glu10=
ENST00000556293.6:n.2378G=
ENST00000556754.1:n.1172G=
ENST00000556754.2:n.3321G=
ENST00000557229.5:n.384G=
ENST00000557229.6:n.384G=
ENST00000697613.1:c.265G= ENSP00000513359.1:p.Glu89=
ENST00000697614.1:c.28G= ENSP00000513360.1:p.Glu10=
ENST00000697615.1:n.783G=