Canonical Allele Identifier: CA257418803

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20476431C>T , CM000676.2:g.20476431C>T	GRCh38
NC_000014.8:g.20944590C>T , CM000676.1:g.20944590C>T	GRCh37
NC_000014.7:g.20014430C>T	NCBI36
NG_009631.1:g.12049C>T , LRG_91:g.12049C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.700C>T MANE Select	NP_000261.2:p.Arg234Ter
ENST00000361505.10:c.700C>T MANE Select	ENSP00000354532.6:p.Arg234Ter
NM_000270.3:c.700C>T , LRG_91t1:c.700C>T	NP_000261.2:p.Arg234Ter
ENST00000361505.9:c.700C>T	ENSP00000354532.5:p.Arg234Ter
ENST00000553591.2:c.817C>T	ENSP00000452421.2:p.Arg273Ter
ENST00000554056.5:n.1008C>T
ENST00000556293.6:n.3123C>T
ENST00000556754.1:n.1917C>T
ENST00000556754.2:n.4066C>T
ENST00000557229.6:n.1129C>T
ENST00000697613.1:c.700C>T	ENSP00000513359.1:p.Arg234Ter
ENST00000697614.1:c.463C>T	ENSP00000513360.1:p.Arg155Ter
ENST00000697615.1:n.1528C>T