Canonical Allele Identifier: CA389144317

Gene: PNP

Linked Data

• dbSNP Id: rs1882004671
• MyVariant Identifiers: chr14:g.20940529C>G (hg19) ; chr14:g.20472370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472370C>G , CM000676.2:g.20472370C>G	GRCh38
NC_000014.8:g.20940529C>G , CM000676.1:g.20940529C>G	GRCh37
NC_000014.7:g.20010369C>G	NCBI36
NG_009631.1:g.7988C>G , LRG_91:g.7988C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.191C>G	ENSP00000452421.2:p.Pro64Arg
ENST00000556293.6:n.193C>G
ENST00000556754.2:n.1136C>G
ENST00000557229.6:n.193C>G
ENST00000697613.1:c.74C>G	ENSP00000513359.1:p.Pro25Arg
ENST00000697614.1:c.-164C>G	ENSP00000513360.1:n.-164C>G
ENST00000697615.1:n.592C>G
ENST00000361505.10:c.74C>G MANE Select	ENSP00000354532.6:p.Pro25Arg
ENST00000361505.9:c.74C>G	ENSP00000354532.5:p.Pro25Arg
ENST00000553418.5:c.74C>G	ENSP00000450663.1:p.Pro25Arg
ENST00000553591.1:c.191C>G	ENSP00000452421.1:p.Pro64Arg
ENST00000554056.5:n.185C>G
ENST00000554065.1:c.-164C>G	ENSP00000451108.1:n.-164C>G
ENST00000556293.5:n.193C>G
ENST00000557229.5:n.193C>G
NM_000270.3:c.74C>G , LRG_91t1:c.74C>G	NP_000261.2:p.Pro25Arg
NM_000270.4:c.74C>G MANE Select	NP_000261.2:p.Pro25Arg