Canonical Allele Identifier: CA2122043922

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472462T= , CM000676.2:g.20472462T=	GRCh38
NC_000014.8:g.20940621T= , CM000676.1:g.20940621T=	GRCh37
NC_000014.7:g.20010461T=	NCBI36
NG_009631.1:g.8080T= , LRG_91:g.8080T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.283T=	ENSP00000452421.2:p.Phe95=
ENST00000556293.6:n.285T=
ENST00000556754.2:n.1228T=
ENST00000557229.6:n.285T=
ENST00000697613.1:c.166T=	ENSP00000513359.1:p.Phe56=
ENST00000697614.1:c.-72T=	ENSP00000513360.1:n.-72T=
ENST00000697615.1:n.684T=
ENST00000361505.10:c.166T= MANE Select	ENSP00000354532.6:p.Phe56=
ENST00000361505.9:c.166T=	ENSP00000354532.5:p.Phe56=
ENST00000553418.5:c.166T=	ENSP00000450663.1:p.Phe56=
ENST00000553591.1:c.283T=	ENSP00000452421.1:p.Phe95=
ENST00000554056.5:n.277T=
ENST00000554065.1:c.-72T=	ENSP00000451108.1:n.-72T=
ENST00000556293.5:n.285T=
ENST00000557229.5:n.285T=
NM_000270.3:c.166T= , LRG_91t1:c.166T=	NP_000261.2:p.Phe56=
NM_000270.4:c.166T= MANE Select	NP_000261.2:p.Phe56=