Canonical Allele Identifier: CA485161638

Gene: PNP

Linked Data

• ClinVar Variation Id: 2851192
• ClinVar RCV Id: RCV003630890
• MyVariant Identifiers: chr14:g.20940509G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472350G>A , CM000676.2:g.20472350G>A	GRCh38
NC_000014.8:g.20940509G>A , CM000676.1:g.20940509G>A	GRCh37
NC_000014.7:g.20010349G>A	NCBI36
NG_009631.1:g.7968G>A , LRG_91:g.7968G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.171G>A	ENSP00000452421.2:p.Leu57=
ENST00000556293.6:n.173G>A
ENST00000556754.2:n.1116G>A
ENST00000557229.6:n.173G>A
ENST00000697613.1:c.54G>A	ENSP00000513359.1:p.Leu18=
ENST00000697614.1:c.-184G>A	ENSP00000513360.1:n.-184G>A
ENST00000697615.1:n.572G>A
ENST00000361505.10:c.54G>A MANE Select	ENSP00000354532.6:p.Leu18=
ENST00000361505.9:c.54G>A	ENSP00000354532.5:p.Leu18=
ENST00000553418.5:c.54G>A	ENSP00000450663.1:p.Leu18=
ENST00000553591.1:c.171G>A	ENSP00000452421.1:p.Leu57=
ENST00000554056.5:n.165G>A
ENST00000554065.1:c.-184G>A	ENSP00000451108.1:n.-184G>A
ENST00000556293.5:n.173G>A
ENST00000557229.5:n.173G>A
NM_000270.3:c.54G>A , LRG_91t1:c.54G>A	NP_000261.2:p.Leu18=
NM_000270.4:c.54G>A MANE Select	NP_000261.2:p.Leu18=