Canonical Allele Identifier: CA389144136

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20940496C>A (hg19) ; chr14:g.20472337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472337C>A , CM000676.2:g.20472337C>A	GRCh38
NC_000014.8:g.20940496C>A , CM000676.1:g.20940496C>A	GRCh37
NC_000014.7:g.20010336C>A	NCBI36
NG_009631.1:g.7955C>A , LRG_91:g.7955C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.158C>A	ENSP00000452421.2:p.Ala53Glu
ENST00000556293.6:n.160C>A
ENST00000556754.2:n.1103C>A
ENST00000557229.6:n.160C>A
ENST00000697613.1:c.41C>A	ENSP00000513359.1:p.Ala14Glu
ENST00000697614.1:c.-197C>A	ENSP00000513360.1:n.-197C>A
ENST00000697615.1:n.559C>A
ENST00000361505.10:c.41C>A MANE Select	ENSP00000354532.6:p.Ala14Glu
ENST00000361505.9:c.41C>A	ENSP00000354532.5:p.Ala14Glu
ENST00000553418.5:c.41C>A	ENSP00000450663.1:p.Ala14Glu
ENST00000553591.1:c.158C>A	ENSP00000452421.1:p.Ala53Glu
ENST00000554056.5:n.152C>A
ENST00000554065.1:c.-197C>A	ENSP00000451108.1:n.-197C>A
ENST00000556293.5:n.160C>A
ENST00000557229.5:n.160C>A
NM_000270.3:c.41C>A , LRG_91t1:c.41C>A	NP_000261.2:p.Ala14Glu
NM_000270.4:c.41C>A MANE Select	NP_000261.2:p.Ala14Glu