Canonical Allele Identifier: CA2122044029
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472676C= , CM000676.2:g.20472676C= GRCh38
NC_000014.8:g.20940835C= , CM000676.1:g.20940835C= GRCh37
NC_000014.7:g.20010675C= NCBI36
NG_009631.1:g.8294C= , LRG_91:g.8294C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.298+199C= ENSP00000452421.2:n.298+199C=
ENST00000556293.6:n.499C=
ENST00000556754.2:n.1442C=
ENST00000557229.6:n.300+199C=
ENST00000697613.1:c.181+199C= ENSP00000513359.1:n.181+199C=
ENST00000697614.1:c.-57+199C= ENSP00000513360.1:n.-57+199C=
ENST00000697615.1:n.699+199C=
ENST00000361505.10:c.181+199C= MANE Select ENSP00000354532.6:n.181+199C=
ENST00000361505.9:c.181+199C= ENSP00000354532.5:n.181+199C=
ENST00000553418.5:c.181+199C= ENSP00000450663.1:n.181+199C=
ENST00000553591.1:c.298+199C= ENSP00000452421.1:n.298+199C=
ENST00000554056.5:n.292+199C=
ENST00000554065.1:c.-57+199C= ENSP00000451108.1:n.-57+199C=
ENST00000556293.5:n.499C=
ENST00000557229.5:n.300+199C=
NM_000270.3:c.181+199C= , LRG_91t1:c.181+199C= NP_000261.2:n.181+199C=
NM_000270.4:c.181+199C= MANE Select NP_000261.2:n.181+199C=