Canonical Allele Identifier: CA389145484

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943234T>C (hg19) ; chr14:g.20475075T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475075T>C , CM000676.2:g.20475075T>C	GRCh38
NC_000014.8:g.20943234T>C , CM000676.1:g.20943234T>C	GRCh37
NC_000014.7:g.20013074T>C	NCBI36
NG_009631.1:g.10693T>C , LRG_91:g.10693T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.592T>C	ENSP00000452421.2:p.Phe198Leu
ENST00000556293.6:n.2898T>C
ENST00000556754.2:n.3841T>C
ENST00000557229.6:n.904T>C
ENST00000697613.1:c.475T>C	ENSP00000513359.1:p.Phe159Leu
ENST00000697614.1:c.238T>C	ENSP00000513360.1:p.Phe80Leu
ENST00000697615.1:n.1303T>C
ENST00000361505.10:c.475T>C MANE Select	ENSP00000354532.6:p.Phe159Leu
ENST00000361505.9:c.475T>C	ENSP00000354532.5:p.Phe159Leu
ENST00000553591.1:c.592T>C	ENSP00000452421.1:p.Phe198Leu
ENST00000554056.5:n.783T>C
ENST00000556754.1:n.1692T>C
ENST00000557229.5:n.904T>C
NM_000270.3:c.475T>C , LRG_91t1:c.475T>C	NP_000261.2:p.Phe159Leu
NM_000270.4:c.475T>C MANE Select	NP_000261.2:p.Phe159Leu