Canonical Allele Identifier: CA2122045027
Community Standard Title: NM_000270.4(PNP):c.383A= (p.Asp128=)
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20474870A= , CM000676.2:g.20474870A= GRCh38
NC_000014.8:g.20943029A= , CM000676.1:g.20943029A= GRCh37
NC_000014.7:g.20012869A= NCBI36
NG_009631.1:g.10488A= , LRG_91:g.10488A=

Transcript Alleles

HGVS Amino-acid Change
NM_000270.4:c.383A= MANE Select NP_000261.2:p.Asp128=
ENST00000361505.10:c.383A= MANE Select ENSP00000354532.6:p.Asp128=
NM_000270.3:c.383A= , LRG_91t1:c.383A= NP_000261.2:p.Asp128=
ENST00000361505.9:c.383A= ENSP00000354532.5:p.Asp128=
ENST00000553591.1:c.500A= ENSP00000452421.1:p.Asp167=
ENST00000553591.2:c.500A= ENSP00000452421.2:p.Asp167=
ENST00000554056.5:n.691A=
ENST00000554065.1:c.146A= ENSP00000451108.1:p.Asp49=
ENST00000556293.6:n.2693A=
ENST00000556754.1:n.1487A=
ENST00000556754.2:n.3636A=
ENST00000557229.5:n.699A=
ENST00000557229.6:n.699A=
ENST00000697613.1:c.383A= ENSP00000513359.1:p.Asp128=
ENST00000697614.1:c.146A= ENSP00000513360.1:p.Asp49=
ENST00000697615.1:n.1098A=