Canonical Allele Identifier: CA389144963

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474534C>T , CM000676.2:g.20474534C>T	GRCh38
NC_000014.8:g.20942693C>T , CM000676.1:g.20942693C>T	GRCh37
NC_000014.7:g.20012533C>T	NCBI36
NG_009631.1:g.10152C>T , LRG_91:g.10152C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.244C>T MANE Select	NP_000261.2:p.Gln82Ter
ENST00000361505.10:c.244C>T MANE Select	ENSP00000354532.6:p.Gln82Ter
NM_000270.3:c.244C>T , LRG_91t1:c.244C>T	NP_000261.2:p.Gln82Ter
ENST00000361505.9:c.244C>T	ENSP00000354532.5:p.Gln82Ter
ENST00000553418.5:c.244C>T	ENSP00000450663.1:p.Gln82Ter
ENST00000553591.1:c.361C>T	ENSP00000452421.1:p.Gln121Ter
ENST00000553591.2:c.361C>T	ENSP00000452421.2:p.Gln121Ter
ENST00000554056.5:n.355C>T
ENST00000554065.1:c.7C>T	ENSP00000451108.1:p.Gln3Ter
ENST00000556293.6:n.2357C>T
ENST00000556754.1:n.1151C>T
ENST00000556754.2:n.3300C>T
ENST00000557229.5:n.363C>T
ENST00000557229.6:n.363C>T
ENST00000697613.1:c.244C>T	ENSP00000513359.1:p.Gln82Ter
ENST00000697614.1:c.7C>T	ENSP00000513360.1:p.Gln3Ter
ENST00000697615.1:n.762C>T