Canonical Allele Identifier: CA389145686

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475169G>T , CM000676.2:g.20475169G>T	GRCh38
NC_000014.8:g.20943328G>T , CM000676.1:g.20943328G>T	GRCh37
NC_000014.7:g.20013168G>T	NCBI36
NG_009631.1:g.10787G>T , LRG_91:g.10787G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.569G>T MANE Select	NP_000261.2:p.Gly190Val
ENST00000361505.10:c.569G>T MANE Select	ENSP00000354532.6:p.Gly190Val
NM_000270.3:c.569G>T , LRG_91t1:c.569G>T	NP_000261.2:p.Gly190Val
ENST00000361505.9:c.569G>T	ENSP00000354532.5:p.Gly190Val
ENST00000553591.2:c.686G>T	ENSP00000452421.2:p.Gly229Val
ENST00000554056.5:n.877G>T
ENST00000556293.6:n.2992G>T
ENST00000556754.1:n.1786G>T
ENST00000556754.2:n.3935G>T
ENST00000557229.6:n.998G>T
ENST00000697613.1:c.569G>T	ENSP00000513359.1:p.Gly190Val
ENST00000697614.1:c.332G>T	ENSP00000513360.1:p.Gly111Val
ENST00000697615.1:n.1397G>T