Canonical Allele Identifier: CA389145507
Gene: PNP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20475086G>A , CM000676.2:g.20475086G>A GRCh38
NC_000014.8:g.20943245G>A , CM000676.1:g.20943245G>A GRCh37
NC_000014.7:g.20013085G>A NCBI36
NG_009631.1:g.10704G>A , LRG_91:g.10704G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553591.2:c.603G>A ENSP00000452421.2:p.Met201Ile
ENST00000556293.6:n.2909G>A
ENST00000556754.2:n.3852G>A
ENST00000557229.6:n.915G>A
ENST00000697613.1:c.486G>A ENSP00000513359.1:p.Met162Ile
ENST00000697614.1:c.249G>A ENSP00000513360.1:p.Met83Ile
ENST00000697615.1:n.1314G>A
ENST00000361505.10:c.486G>A MANE Select ENSP00000354532.6:p.Met162Ile
ENST00000361505.9:c.486G>A ENSP00000354532.5:p.Met162Ile
ENST00000553591.1:c.603G>A ENSP00000452421.1:p.Met201Ile
ENST00000554056.5:n.794G>A
ENST00000556754.1:n.1703G>A
ENST00000557229.5:n.915G>A
NM_000270.3:c.486G>A , LRG_91t1:c.486G>A NP_000261.2:p.Met162Ile
NM_000270.4:c.486G>A MANE Select NP_000261.2:p.Met162Ile