Canonical Allele Identifier: CA389144234

Gene: PNP

Linked Data

• ClinVar Variation Id: 1367694
• ClinVar RCV Id: RCV001947422
• dbSNP Id: rs2139335191
• gnomAD v4: 14-20472354-C-T
• MyVariant Identifiers: chr14:g.20940513C>T (hg19) ; chr14:g.20472354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472354C>T , CM000676.2:g.20472354C>T	GRCh38
NC_000014.8:g.20940513C>T , CM000676.1:g.20940513C>T	GRCh37
NC_000014.7:g.20010353C>T	NCBI36
NG_009631.1:g.7972C>T , LRG_91:g.7972C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.175C>T	ENSP00000452421.2:p.His59Tyr
ENST00000556293.6:n.177C>T
ENST00000556754.2:n.1120C>T
ENST00000557229.6:n.177C>T
ENST00000697613.1:c.58C>T	ENSP00000513359.1:p.His20Tyr
ENST00000697614.1:c.-180C>T	ENSP00000513360.1:n.-180C>T
ENST00000697615.1:n.576C>T
ENST00000361505.10:c.58C>T MANE Select	ENSP00000354532.6:p.His20Tyr
ENST00000361505.9:c.58C>T	ENSP00000354532.5:p.His20Tyr
ENST00000553418.5:c.58C>T	ENSP00000450663.1:p.His20Tyr
ENST00000553591.1:c.175C>T	ENSP00000452421.1:p.His59Tyr
ENST00000554056.5:n.169C>T
ENST00000554065.1:c.-180C>T	ENSP00000451108.1:n.-180C>T
ENST00000556293.5:n.177C>T
ENST00000557229.5:n.177C>T
NM_000270.3:c.58C>T , LRG_91t1:c.58C>T	NP_000261.2:p.His20Tyr
NM_000270.4:c.58C>T MANE Select	NP_000261.2:p.His20Tyr