Canonical Allele Identifier: CA123671
Gene: PNP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20475120G>C
GRCh37 chr14:g.20943279G>C
Revel Score:
ENST00000361505 (MANE Select) 0.891
ENST00000554469 0.891
ENST00000553591 0.891
ClinVar Allele:
29028
ClinVar RCV:
RCV000015026
ClinVar Variation:
13989
dbSNP:
104894454
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20475120G>C , CM000676.2:g.20475120G>C GRCh38
NC_000014.8:g.20943279G>C , CM000676.1:g.20943279G>C GRCh37
NC_000014.7:g.20013119G>C NCBI36
NG_009631.1:g.10738G>C , LRG_91:g.10738G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553591.2:c.637G>C ENSP00000452421.2:p.Ala213Pro
ENST00000556293.6:n.2943G>C
ENST00000556754.2:n.3886G>C
ENST00000557229.6:n.949G>C
ENST00000697613.1:c.520G>C ENSP00000513359.1:p.Ala174Pro
ENST00000697614.1:c.283G>C ENSP00000513360.1:p.Ala95Pro
ENST00000697615.1:n.1348G>C
ENST00000361505.10:c.520G>C MANE Select ENSP00000354532.6:p.Ala174Pro
ENST00000361505.9:c.520G>C ENSP00000354532.5:p.Ala174Pro
ENST00000553591.1:c.637G>C ENSP00000452421.1:p.Ala213Pro
ENST00000554056.5:n.828G>C
ENST00000556754.1:n.1737G>C
ENST00000557229.5:n.949G>C
NM_000270.3:c.520G>C , LRG_91t1:c.520G>C NP_000261.2:p.Ala174Pro
NM_000270.4:c.520G>C MANE Select NP_000261.2:p.Ala174Pro
Search 100 bp 5'
Search 100 bp 3'