Canonical Allele Identifier: CA292806

Gene: PNP

Linked Data

• ClinVar Variation Id: 138728
• ClinVar RCV Id: RCV000127498
• dbSNP Id: rs117497269
• ExAC: 14:20940449 A / T
• gnomAD v2: 14-20940449-A-T
• gnomAD v3: 14-20472290-A-T
• gnomAD v4: 14-20472290-A-T
• MyVariant Identifiers: chr14:g.20940449A>T (hg19) ; chr14:g.20472290A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472290A>T , CM000676.2:g.20472290A>T	GRCh38
NC_000014.8:g.20940449A>T , CM000676.1:g.20940449A>T	GRCh37
NC_000014.7:g.20010289A>T	NCBI36
NG_009631.1:g.7908A>T , LRG_91:g.7908A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.129-18A>T	ENSP00000452421.2:n.129-18A>T
ENST00000556293.6:n.131-18A>T
ENST00000556754.2:n.1056A>T
ENST00000557229.6:n.131-18A>T
ENST00000697613.1:c.12-18A>T	ENSP00000513359.1:n.12-18A>T
ENST00000697614.1:c.-226-18A>T	ENSP00000513360.1:n.-226-18A>T
ENST00000697615.1:n.512A>T
ENST00000361505.10:c.12-18A>T MANE Select	ENSP00000354532.6:n.12-18A>T
ENST00000361505.9:c.12-18A>T	ENSP00000354532.5:n.12-18A>T
ENST00000553418.5:c.12-18A>T	ENSP00000450663.1:n.12-18A>T
ENST00000553591.1:c.129-18A>T	ENSP00000452421.1:n.129-18A>T
ENST00000554056.5:n.123-18A>T
ENST00000554065.1:c.-226-18A>T	ENSP00000451108.1:n.-226-18A>T
ENST00000556293.5:n.131-18A>T
ENST00000557229.5:n.131-18A>T
NM_000270.3:c.12-18A>T , LRG_91t1:c.12-18A>T	NP_000261.2:n.12-18A>T
NM_000270.4:c.12-18A>T MANE Select	NP_000261.2:n.12-18A>T