Canonical Allele Identifier: CA7082212
Gene: PNP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20476432G>A
GRCh37 chr14:g.20944591G>A
Revel Score:
ENST00000361505 (MANE Select) 0.708
gnomAD v2:
14:20944591 G / A
gnomAD v3:
14:20476432 G / A
gnomAD v4:
chr14-20476432-G-A
Joint Max Group AF 0.0000315 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002999 (NFE)
ClinVar RCV:
RCV001296121
ClinVar Variation:
1000043
dbSNP:
104894451
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20476432G>A , CM000676.2:g.20476432G>A GRCh38
NC_000014.8:g.20944591G>A , CM000676.1:g.20944591G>A GRCh37
NC_000014.7:g.20014431G>A NCBI36
NG_009631.1:g.12050G>A , LRG_91:g.12050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.818G>A ENSP00000452421.2:p.Arg273Gln
ENST00000556293.6:n.3124G>A
ENST00000556754.2:n.4067G>A
ENST00000557229.6:n.1130G>A
ENST00000697613.1:c.701G>A ENSP00000513359.1:p.Arg234Gln
ENST00000697614.1:c.464G>A ENSP00000513360.1:p.Arg155Gln
ENST00000697615.1:n.1529G>A
ENST00000361505.10:c.701G>A MANE Select ENSP00000354532.6:p.Arg234Gln
ENST00000361505.9:c.701G>A ENSP00000354532.5:p.Arg234Gln
ENST00000554056.5:n.1009G>A
ENST00000556754.1:n.1918G>A
NM_000270.3:c.701G>A , LRG_91t1:c.701G>A NP_000261.2:p.Arg234Gln
NM_000270.4:c.701G>A MANE Select NP_000261.2:p.Arg234Gln
Search 100 bp 5'
Search 100 bp 3'