Canonical Allele Identifier: CA389144015

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20940478A>T (hg19) ; chr14:g.20472319A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472319A>T , CM000676.2:g.20472319A>T	GRCh38
NC_000014.8:g.20940478A>T , CM000676.1:g.20940478A>T	GRCh37
NC_000014.7:g.20010318A>T	NCBI36
NG_009631.1:g.7937A>T , LRG_91:g.7937A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.140A>T	ENSP00000452421.2:p.Glu47Val
ENST00000556293.6:n.142A>T
ENST00000556754.2:n.1085A>T
ENST00000557229.6:n.142A>T
ENST00000697613.1:c.23A>T	ENSP00000513359.1:p.Glu8Val
ENST00000697614.1:c.-215A>T	ENSP00000513360.1:n.-215A>T
ENST00000697615.1:n.541A>T
ENST00000361505.10:c.23A>T MANE Select	ENSP00000354532.6:p.Glu8Val
ENST00000361505.9:c.23A>T	ENSP00000354532.5:p.Glu8Val
ENST00000553418.5:c.23A>T	ENSP00000450663.1:p.Glu8Val
ENST00000553591.1:c.140A>T	ENSP00000452421.1:p.Glu47Val
ENST00000554056.5:n.134A>T
ENST00000554065.1:c.-215A>T	ENSP00000451108.1:n.-215A>T
ENST00000556293.5:n.142A>T
ENST00000557229.5:n.142A>T
NM_000270.3:c.23A>T , LRG_91t1:c.23A>T	NP_000261.2:p.Glu8Val
NM_000270.4:c.23A>T MANE Select	NP_000261.2:p.Glu8Val