Canonical Allele Identifier: CA257418300

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475201G>T , CM000676.2:g.20475201G>T	GRCh38
NC_000014.8:g.20943360G>T , CM000676.1:g.20943360G>T	GRCh37
NC_000014.7:g.20013200G>T	NCBI36
NG_009631.1:g.10819G>T , LRG_91:g.10819G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.601G>T MANE Select	NP_000261.2:p.Glu201Ter
ENST00000361505.10:c.601G>T MANE Select	ENSP00000354532.6:p.Glu201Ter
NM_000270.3:c.601G>T , LRG_91t1:c.601G>T	NP_000261.2:p.Glu201Ter
ENST00000361505.9:c.601G>T	ENSP00000354532.5:p.Glu201Ter
ENST00000553591.2:c.718G>T	ENSP00000452421.2:p.Glu240Ter
ENST00000554056.5:n.909G>T
ENST00000556293.6:n.3024G>T
ENST00000556754.1:n.1818G>T
ENST00000556754.2:n.3967G>T
ENST00000557229.6:n.1030G>T
ENST00000697613.1:c.601G>T	ENSP00000513359.1:p.Glu201Ter
ENST00000697614.1:c.364G>T	ENSP00000513360.1:p.Glu122Ter
ENST00000697615.1:n.1429G>T