Canonical Allele Identifier: CA2122044035
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472698G= , CM000676.2:g.20472698G= GRCh38
NC_000014.8:g.20940857G= , CM000676.1:g.20940857G= GRCh37
NC_000014.7:g.20010697G= NCBI36
NG_009631.1:g.8316G= , LRG_91:g.8316G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.298+221G= ENSP00000452421.2:n.298+221G=
ENST00000556293.6:n.521G=
ENST00000556754.2:n.1464G=
ENST00000557229.6:n.300+221G=
ENST00000697613.1:c.181+221G= ENSP00000513359.1:n.181+221G=
ENST00000697614.1:c.-57+221G= ENSP00000513360.1:n.-57+221G=
ENST00000697615.1:n.699+221G=
ENST00000361505.10:c.181+221G= MANE Select ENSP00000354532.6:n.181+221G=
ENST00000361505.9:c.181+221G= ENSP00000354532.5:n.181+221G=
ENST00000553418.5:c.181+221G= ENSP00000450663.1:n.181+221G=
ENST00000553591.1:c.298+221G= ENSP00000452421.1:n.298+221G=
ENST00000554056.5:n.292+221G=
ENST00000554065.1:c.-57+221G= ENSP00000451108.1:n.-57+221G=
ENST00000556293.5:n.521G=
ENST00000557229.5:n.300+221G=
NM_000270.3:c.181+221G= , LRG_91t1:c.181+221G= NP_000261.2:n.181+221G=
NM_000270.4:c.181+221G= MANE Select NP_000261.2:n.181+221G=