Canonical Allele Identifier: CA292807

Gene: PNP

Linked Data

• ClinVar Variation Id: 138729
• ClinVar RCV Id: RCV000127499 ; RCV000370775
• dbSNP Id: rs1049562
• ExAC: 14:20940515 C / T
• gnomAD v2: 14-20940515-C-T
• gnomAD v3: 14-20472356-C-T
• gnomAD v4: 14-20472356-C-T
• MyVariant Identifiers: chr14:g.20940515C>T (hg19) ; chr14:g.20472356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472356C>T , CM000676.2:g.20472356C>T	GRCh38
NC_000014.8:g.20940515C>T , CM000676.1:g.20940515C>T	GRCh37
NC_000014.7:g.20010355C>T	NCBI36
NG_009631.1:g.7974C>T , LRG_91:g.7974C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.177C>T	ENSP00000452421.2:p.His59=
ENST00000556293.6:n.179C>T
ENST00000556754.2:n.1122C>T
ENST00000557229.6:n.179C>T
ENST00000697613.1:c.60C>T	ENSP00000513359.1:p.His20=
ENST00000697614.1:c.-178C>T	ENSP00000513360.1:n.-178C>T
ENST00000697615.1:n.578C>T
ENST00000361505.10:c.60C>T MANE Select	ENSP00000354532.6:p.His20=
ENST00000361505.9:c.60C>T	ENSP00000354532.5:p.His20=
ENST00000553418.5:c.60C>T	ENSP00000450663.1:p.His20=
ENST00000553591.1:c.177C>T	ENSP00000452421.1:p.His59=
ENST00000554056.5:n.171C>T
ENST00000554065.1:c.-178C>T	ENSP00000451108.1:n.-178C>T
ENST00000556293.5:n.179C>T
ENST00000557229.5:n.179C>T
NM_000270.3:c.60C>T , LRG_91t1:c.60C>T	NP_000261.2:p.His20=
NM_000270.4:c.60C>T MANE Select	NP_000261.2:p.His20=