Canonical Allele Identifier: CA389145528

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943255T>A (hg19) ; chr14:g.20475096T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475096T>A , CM000676.2:g.20475096T>A	GRCh38
NC_000014.8:g.20943255T>A , CM000676.1:g.20943255T>A	GRCh37
NC_000014.7:g.20013095T>A	NCBI36
NG_009631.1:g.10714T>A , LRG_91:g.10714T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.613T>A	ENSP00000452421.2:p.Tyr205Asn
ENST00000556293.6:n.2919T>A
ENST00000556754.2:n.3862T>A
ENST00000557229.6:n.925T>A
ENST00000697613.1:c.496T>A	ENSP00000513359.1:p.Tyr166Asn
ENST00000697614.1:c.259T>A	ENSP00000513360.1:p.Tyr87Asn
ENST00000697615.1:n.1324T>A
ENST00000361505.10:c.496T>A MANE Select	ENSP00000354532.6:p.Tyr166Asn
ENST00000361505.9:c.496T>A	ENSP00000354532.5:p.Tyr166Asn
ENST00000553591.1:c.613T>A	ENSP00000452421.1:p.Tyr205Asn
ENST00000554056.5:n.804T>A
ENST00000556754.1:n.1713T>A
ENST00000557229.5:n.925T>A
NM_000270.3:c.496T>A , LRG_91t1:c.496T>A	NP_000261.2:p.Tyr166Asn
NM_000270.4:c.496T>A MANE Select	NP_000261.2:p.Tyr166Asn