Canonical Allele Identifier: CA2122043936
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472485C= , CM000676.2:g.20472485C= GRCh38
NC_000014.8:g.20940644C= , CM000676.1:g.20940644C= GRCh37
NC_000014.7:g.20010484C= NCBI36
NG_009631.1:g.8103C= , LRG_91:g.8103C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.298+8C= ENSP00000452421.2:n.298+8C=
ENST00000556293.6:n.308C=
ENST00000556754.2:n.1251C=
ENST00000557229.6:n.300+8C=
ENST00000697613.1:c.181+8C= ENSP00000513359.1:n.181+8C=
ENST00000697614.1:c.-57+8C= ENSP00000513360.1:n.-57+8C=
ENST00000697615.1:n.699+8C=
ENST00000361505.10:c.181+8C= MANE Select ENSP00000354532.6:n.181+8C=
ENST00000361505.9:c.181+8C= ENSP00000354532.5:n.181+8C=
ENST00000553418.5:c.181+8C= ENSP00000450663.1:n.181+8C=
ENST00000553591.1:c.298+8C= ENSP00000452421.1:n.298+8C=
ENST00000554056.5:n.292+8C=
ENST00000554065.1:c.-57+8C= ENSP00000451108.1:n.-57+8C=
ENST00000556293.5:n.308C=
ENST00000557229.5:n.300+8C=
NM_000270.3:c.181+8C= , LRG_91t1:c.181+8C= NP_000261.2:n.181+8C=
NM_000270.4:c.181+8C= MANE Select NP_000261.2:n.181+8C=