Canonical Allele Identifier: CA389144867

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474489C>T , CM000676.2:g.20474489C>T	GRCh38
NC_000014.8:g.20942648C>T , CM000676.1:g.20942648C>T	GRCh37
NC_000014.7:g.20012488C>T	NCBI36
NG_009631.1:g.10107C>T , LRG_91:g.10107C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.199C>T MANE Select	NP_000261.2:p.Arg67Ter
ENST00000361505.10:c.199C>T MANE Select	ENSP00000354532.6:p.Arg67Ter
NM_000270.3:c.199C>T , LRG_91t1:c.199C>T	NP_000261.2:p.Arg67Ter
ENST00000361505.9:c.199C>T	ENSP00000354532.5:p.Arg67Ter
ENST00000553418.5:c.199C>T	ENSP00000450663.1:p.Arg67Ter
ENST00000553591.1:c.316C>T	ENSP00000452421.1:p.Arg106Ter
ENST00000553591.2:c.316C>T	ENSP00000452421.2:p.Arg106Ter
ENST00000554056.5:n.310C>T
ENST00000554065.1:c.-39C>T	ENSP00000451108.1:n.-39C>T
ENST00000556293.6:n.2312C>T
ENST00000556754.1:n.1106C>T
ENST00000556754.2:n.3255C>T
ENST00000557229.5:n.318C>T
ENST00000557229.6:n.318C>T
ENST00000697613.1:c.199C>T	ENSP00000513359.1:p.Arg67Ter
ENST00000697614.1:c.-39C>T	ENSP00000513360.1:n.-39C>T
ENST00000697615.1:n.717C>T