Canonical Allele Identifier: CA389145489

Gene: PNP

Linked Data

• dbSNP Id: rs1302163319
• gnomAD v2: 14-20943236-C-A
• gnomAD v4: 14-20475077-C-A
• MyVariant Identifiers: chr14:g.20943236C>A (hg19) ; chr14:g.20475077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475077C>A , CM000676.2:g.20475077C>A	GRCh38
NC_000014.8:g.20943236C>A , CM000676.1:g.20943236C>A	GRCh37
NC_000014.7:g.20013076C>A	NCBI36
NG_009631.1:g.10695C>A , LRG_91:g.10695C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.594C>A	ENSP00000452421.2:p.Phe198Leu
ENST00000556293.6:n.2900C>A
ENST00000556754.2:n.3843C>A
ENST00000557229.6:n.906C>A
ENST00000697613.1:c.477C>A	ENSP00000513359.1:p.Phe159Leu
ENST00000697614.1:c.240C>A	ENSP00000513360.1:p.Phe80Leu
ENST00000697615.1:n.1305C>A
ENST00000361505.10:c.477C>A MANE Select	ENSP00000354532.6:p.Phe159Leu
ENST00000361505.9:c.477C>A	ENSP00000354532.5:p.Phe159Leu
ENST00000553591.1:c.594C>A	ENSP00000452421.1:p.Phe198Leu
ENST00000554056.5:n.785C>A
ENST00000556754.1:n.1694C>A
ENST00000557229.5:n.906C>A
NM_000270.3:c.477C>A , LRG_91t1:c.477C>A	NP_000261.2:p.Phe159Leu
NM_000270.4:c.477C>A MANE Select	NP_000261.2:p.Phe159Leu