Canonical Allele Identifier: CA389144790

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20940622T>A (hg19) ; chr14:g.20472463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472463T>A , CM000676.2:g.20472463T>A	GRCh38
NC_000014.8:g.20940622T>A , CM000676.1:g.20940622T>A	GRCh37
NC_000014.7:g.20010462T>A	NCBI36
NG_009631.1:g.8081T>A , LRG_91:g.8081T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.284T>A	ENSP00000452421.2:p.Phe95Tyr
ENST00000556293.6:n.286T>A
ENST00000556754.2:n.1229T>A
ENST00000557229.6:n.286T>A
ENST00000697613.1:c.167T>A	ENSP00000513359.1:p.Phe56Tyr
ENST00000697614.1:c.-71T>A	ENSP00000513360.1:n.-71T>A
ENST00000697615.1:n.685T>A
ENST00000361505.10:c.167T>A MANE Select	ENSP00000354532.6:p.Phe56Tyr
ENST00000361505.9:c.167T>A	ENSP00000354532.5:p.Phe56Tyr
ENST00000553418.5:c.167T>A	ENSP00000450663.1:p.Phe56Tyr
ENST00000553591.1:c.284T>A	ENSP00000452421.1:p.Phe95Tyr
ENST00000554056.5:n.278T>A
ENST00000554065.1:c.-71T>A	ENSP00000451108.1:n.-71T>A
ENST00000556293.5:n.286T>A
ENST00000557229.5:n.286T>A
NM_000270.3:c.167T>A , LRG_91t1:c.167T>A	NP_000261.2:p.Phe56Tyr
NM_000270.4:c.167T>A MANE Select	NP_000261.2:p.Phe56Tyr