Canonical Allele Identifier: CA389145514

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943247C>G (hg19) ; chr14:g.20475088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475088C>G , CM000676.2:g.20475088C>G	GRCh38
NC_000014.8:g.20943247C>G , CM000676.1:g.20943247C>G	GRCh37
NC_000014.7:g.20013087C>G	NCBI36
NG_009631.1:g.10706C>G , LRG_91:g.10706C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.605C>G	ENSP00000452421.2:p.Ser202Cys
ENST00000556293.6:n.2911C>G
ENST00000556754.2:n.3854C>G
ENST00000557229.6:n.917C>G
ENST00000697613.1:c.488C>G	ENSP00000513359.1:p.Ser163Cys
ENST00000697614.1:c.251C>G	ENSP00000513360.1:p.Ser84Cys
ENST00000697615.1:n.1316C>G
ENST00000361505.10:c.488C>G MANE Select	ENSP00000354532.6:p.Ser163Cys
ENST00000361505.9:c.488C>G	ENSP00000354532.5:p.Ser163Cys
ENST00000553591.1:c.605C>G	ENSP00000452421.1:p.Ser202Cys
ENST00000554056.5:n.796C>G
ENST00000556754.1:n.1705C>G
ENST00000557229.5:n.917C>G
NM_000270.3:c.488C>G , LRG_91t1:c.488C>G	NP_000261.2:p.Ser163Cys
NM_000270.4:c.488C>G MANE Select	NP_000261.2:p.Ser163Cys