Canonical Allele Identifier: CA389145486

Gene: PNP

Linked Data

• ClinVar Variation Id: 854693
• ClinVar RCV Id: RCV001059792
• dbSNP Id: rs1422294415
• MyVariant Identifiers: chr14:g.20943235T>A (hg19) ; chr14:g.20475076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475076T>A , CM000676.2:g.20475076T>A	GRCh38
NC_000014.8:g.20943235T>A , CM000676.1:g.20943235T>A	GRCh37
NC_000014.7:g.20013075T>A	NCBI36
NG_009631.1:g.10694T>A , LRG_91:g.10694T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.593T>A	ENSP00000452421.2:p.Phe198Tyr
ENST00000556293.6:n.2899T>A
ENST00000556754.2:n.3842T>A
ENST00000557229.6:n.905T>A
ENST00000697613.1:c.476T>A	ENSP00000513359.1:p.Phe159Tyr
ENST00000697614.1:c.239T>A	ENSP00000513360.1:p.Phe80Tyr
ENST00000697615.1:n.1304T>A
ENST00000361505.10:c.476T>A MANE Select	ENSP00000354532.6:p.Phe159Tyr
ENST00000361505.9:c.476T>A	ENSP00000354532.5:p.Phe159Tyr
ENST00000553591.1:c.593T>A	ENSP00000452421.1:p.Phe198Tyr
ENST00000554056.5:n.784T>A
ENST00000556754.1:n.1693T>A
ENST00000557229.5:n.905T>A
NM_000270.3:c.476T>A , LRG_91t1:c.476T>A	NP_000261.2:p.Phe159Tyr
NM_000270.4:c.476T>A MANE Select	NP_000261.2:p.Phe159Tyr