Canonical Allele Identifier: CA485450761

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943155T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474996T>A , CM000676.2:g.20474996T>A	GRCh38
NC_000014.8:g.20943155T>A , CM000676.1:g.20943155T>A	GRCh37
NC_000014.7:g.20012995T>A	NCBI36
NG_009631.1:g.10614T>A , LRG_91:g.10614T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.578+48T>A	ENSP00000452421.2:n.578+48T>A
ENST00000556293.6:n.2819T>A
ENST00000556754.2:n.3762T>A
ENST00000557229.6:n.825T>A
ENST00000697613.1:c.461+48T>A	ENSP00000513359.1:n.461+48T>A
ENST00000697614.1:c.224+48T>A	ENSP00000513360.1:n.224+48T>A
ENST00000697615.1:n.1224T>A
ENST00000361505.10:c.461+48T>A MANE Select	ENSP00000354532.6:n.461+48T>A
ENST00000361505.9:c.461+48T>A	ENSP00000354532.5:n.461+48T>A
ENST00000553591.1:c.578+48T>A	ENSP00000452421.1:n.578+48T>A
ENST00000554056.5:n.769+48T>A
ENST00000556754.1:n.1613T>A
ENST00000557229.5:n.825T>A
NM_000270.3:c.461+48T>A , LRG_91t1:c.461+48T>A	NP_000261.2:n.461+48T>A
NM_000270.4:c.461+48T>A MANE Select	NP_000261.2:n.461+48T>A