Canonical Allele Identifier: CA2122043913

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472437C= , CM000676.2:g.20472437C=	GRCh38
NC_000014.8:g.20940596C= , CM000676.1:g.20940596C=	GRCh37
NC_000014.7:g.20010436C=	NCBI36
NG_009631.1:g.8055C= , LRG_91:g.8055C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.258C=	ENSP00000452421.2:p.Ile86=
ENST00000556293.6:n.260C=
ENST00000556754.2:n.1203C=
ENST00000557229.6:n.260C=
ENST00000697613.1:c.141C=	ENSP00000513359.1:p.Ile47=
ENST00000697614.1:c.-97C=	ENSP00000513360.1:n.-97C=
ENST00000697615.1:n.659C=
ENST00000361505.10:c.141C= MANE Select	ENSP00000354532.6:p.Ile47=
ENST00000361505.9:c.141C=	ENSP00000354532.5:p.Ile47=
ENST00000553418.5:c.141C=	ENSP00000450663.1:p.Ile47=
ENST00000553591.1:c.258C=	ENSP00000452421.1:p.Ile86=
ENST00000554056.5:n.252C=
ENST00000554065.1:c.-97C=	ENSP00000451108.1:n.-97C=
ENST00000556293.5:n.260C=
ENST00000557229.5:n.260C=
NM_000270.3:c.141C= , LRG_91t1:c.141C=	NP_000261.2:p.Ile47=
NM_000270.4:c.141C= MANE Select	NP_000261.2:p.Ile47=