Canonical Allele Identifier: CA612862417

Gene: PNP

Linked Data

• dbSNP Id: rs1172245853
• gnomAD v2: 14-20940447-T-G
• gnomAD v4: 14-20472288-T-G
• MyVariant Identifiers: chr14:g.20940447T>G (hg19) ; chr14:g.20472288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472288T>G , CM000676.2:g.20472288T>G	GRCh38
NC_000014.8:g.20940447T>G , CM000676.1:g.20940447T>G	GRCh37
NC_000014.7:g.20010287T>G	NCBI36
NG_009631.1:g.7906T>G , LRG_91:g.7906T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.129-20T>G	ENSP00000452421.2:n.129-20T>G
ENST00000556293.6:n.131-20T>G
ENST00000556754.2:n.1054T>G
ENST00000557229.6:n.131-20T>G
ENST00000697613.1:c.12-20T>G	ENSP00000513359.1:n.12-20T>G
ENST00000697614.1:c.-226-20T>G	ENSP00000513360.1:n.-226-20T>G
ENST00000697615.1:n.510T>G
ENST00000361505.10:c.12-20T>G MANE Select	ENSP00000354532.6:n.12-20T>G
ENST00000361505.9:c.12-20T>G	ENSP00000354532.5:n.12-20T>G
ENST00000553418.5:c.12-20T>G	ENSP00000450663.1:n.12-20T>G
ENST00000553591.1:c.129-20T>G	ENSP00000452421.1:n.129-20T>G
ENST00000554056.5:n.123-20T>G
ENST00000554065.1:c.-226-20T>G	ENSP00000451108.1:n.-226-20T>G
ENST00000556293.5:n.131-20T>G
ENST00000557229.5:n.131-20T>G
NM_000270.3:c.12-20T>G , LRG_91t1:c.12-20T>G	NP_000261.2:n.12-20T>G
NM_000270.4:c.12-20T>G MANE Select	NP_000261.2:n.12-20T>G