Canonical Allele Identifier: CA7082015

Gene: PNP

Linked Data

• ClinVar Variation Id: 2160364
• ClinVar RCV Id: RCV003075913
• dbSNP Id: rs776206136
• ExAC: 14:20940619 A / G
• gnomAD v2: 14-20940619-A-G
• gnomAD v3: 14-20472460-A-G
• gnomAD v4: 14-20472460-A-G
• MyVariant Identifiers: chr14:g.20940619A>G (hg19) ; chr14:g.20472460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472460A>G , CM000676.2:g.20472460A>G	GRCh38
NC_000014.8:g.20940619A>G , CM000676.1:g.20940619A>G	GRCh37
NC_000014.7:g.20010459A>G	NCBI36
NG_009631.1:g.8078A>G , LRG_91:g.8078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.281A>G	ENSP00000452421.2:p.Asn94Ser
ENST00000556293.6:n.283A>G
ENST00000556754.2:n.1226A>G
ENST00000557229.6:n.283A>G
ENST00000697613.1:c.164A>G	ENSP00000513359.1:p.Asn55Ser
ENST00000697614.1:c.-74A>G	ENSP00000513360.1:n.-74A>G
ENST00000697615.1:n.682A>G
ENST00000361505.10:c.164A>G MANE Select	ENSP00000354532.6:p.Asn55Ser
ENST00000361505.9:c.164A>G	ENSP00000354532.5:p.Asn55Ser
ENST00000553418.5:c.164A>G	ENSP00000450663.1:p.Asn55Ser
ENST00000553591.1:c.281A>G	ENSP00000452421.1:p.Asn94Ser
ENST00000554056.5:n.275A>G
ENST00000554065.1:c.-74A>G	ENSP00000451108.1:n.-74A>G
ENST00000556293.5:n.283A>G
ENST00000557229.5:n.283A>G
NM_000270.3:c.164A>G , LRG_91t1:c.164A>G	NP_000261.2:p.Asn55Ser
NM_000270.4:c.164A>G MANE Select	NP_000261.2:p.Asn55Ser