Canonical Allele Identifier: CA389145512

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943246T>G (hg19) ; chr14:g.20475087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475087T>G , CM000676.2:g.20475087T>G	GRCh38
NC_000014.8:g.20943246T>G , CM000676.1:g.20943246T>G	GRCh37
NC_000014.7:g.20013086T>G	NCBI36
NG_009631.1:g.10705T>G , LRG_91:g.10705T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.604T>G	ENSP00000452421.2:p.Ser202Ala
ENST00000556293.6:n.2910T>G
ENST00000556754.2:n.3853T>G
ENST00000557229.6:n.916T>G
ENST00000697613.1:c.487T>G	ENSP00000513359.1:p.Ser163Ala
ENST00000697614.1:c.250T>G	ENSP00000513360.1:p.Ser84Ala
ENST00000697615.1:n.1315T>G
ENST00000361505.10:c.487T>G MANE Select	ENSP00000354532.6:p.Ser163Ala
ENST00000361505.9:c.487T>G	ENSP00000354532.5:p.Ser163Ala
ENST00000553591.1:c.604T>G	ENSP00000452421.1:p.Ser202Ala
ENST00000554056.5:n.795T>G
ENST00000556754.1:n.1704T>G
ENST00000557229.5:n.916T>G
NM_000270.3:c.487T>G , LRG_91t1:c.487T>G	NP_000261.2:p.Ser163Ala
NM_000270.4:c.487T>G MANE Select	NP_000261.2:p.Ser163Ala