Canonical Allele Identifier: CA2122043905
Gene: PNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20472410G= , CM000676.2:g.20472410G= GRCh38
NC_000014.8:g.20940569G= , CM000676.1:g.20940569G= GRCh37
NC_000014.7:g.20010409G= NCBI36
NG_009631.1:g.8028G= , LRG_91:g.8028G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.231G= ENSP00000452421.2:p.Leu77=
ENST00000556293.6:n.233G=
ENST00000556754.2:n.1176G=
ENST00000557229.6:n.233G=
ENST00000697613.1:c.114G= ENSP00000513359.1:p.Leu38=
ENST00000697614.1:c.-124G= ENSP00000513360.1:n.-124G=
ENST00000697615.1:n.632G=
ENST00000361505.10:c.114G= MANE Select ENSP00000354532.6:p.Leu38=
ENST00000361505.9:c.114G= ENSP00000354532.5:p.Leu38=
ENST00000553418.5:c.114G= ENSP00000450663.1:p.Leu38=
ENST00000553591.1:c.231G= ENSP00000452421.1:p.Leu77=
ENST00000554056.5:n.225G=
ENST00000554065.1:c.-124G= ENSP00000451108.1:n.-124G=
ENST00000556293.5:n.233G=
ENST00000557229.5:n.233G=
NM_000270.3:c.114G= , LRG_91t1:c.114G= NP_000261.2:p.Leu38=
NM_000270.4:c.114G= MANE Select NP_000261.2:p.Leu38=