Canonical Allele Identifier: CA389144229

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20940513C>A (hg19) ; chr14:g.20472354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472354C>A , CM000676.2:g.20472354C>A	GRCh38
NC_000014.8:g.20940513C>A , CM000676.1:g.20940513C>A	GRCh37
NC_000014.7:g.20010353C>A	NCBI36
NG_009631.1:g.7972C>A , LRG_91:g.7972C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.175C>A	ENSP00000452421.2:p.His59Asn
ENST00000556293.6:n.177C>A
ENST00000556754.2:n.1120C>A
ENST00000557229.6:n.177C>A
ENST00000697613.1:c.58C>A	ENSP00000513359.1:p.His20Asn
ENST00000697614.1:c.-180C>A	ENSP00000513360.1:n.-180C>A
ENST00000697615.1:n.576C>A
ENST00000361505.10:c.58C>A MANE Select	ENSP00000354532.6:p.His20Asn
ENST00000361505.9:c.58C>A	ENSP00000354532.5:p.His20Asn
ENST00000553418.5:c.58C>A	ENSP00000450663.1:p.His20Asn
ENST00000553591.1:c.175C>A	ENSP00000452421.1:p.His59Asn
ENST00000554056.5:n.169C>A
ENST00000554065.1:c.-180C>A	ENSP00000451108.1:n.-180C>A
ENST00000556293.5:n.177C>A
ENST00000557229.5:n.177C>A
NM_000270.3:c.58C>A , LRG_91t1:c.58C>A	NP_000261.2:p.His20Asn
NM_000270.4:c.58C>A MANE Select	NP_000261.2:p.His20Asn