Canonical Allele Identifier: CA389145723

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943346C>A (hg19) ; chr14:g.20475187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475187C>A , CM000676.2:g.20475187C>A	GRCh38
NC_000014.8:g.20943346C>A , CM000676.1:g.20943346C>A	GRCh37
NC_000014.7:g.20013186C>A	NCBI36
NG_009631.1:g.10805C>A , LRG_91:g.10805C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.704C>A	ENSP00000452421.2:p.Ala235Glu
ENST00000556293.6:n.3010C>A
ENST00000556754.2:n.3953C>A
ENST00000557229.6:n.1016C>A
ENST00000697613.1:c.587C>A	ENSP00000513359.1:p.Ala196Glu
ENST00000697614.1:c.350C>A	ENSP00000513360.1:p.Ala117Glu
ENST00000697615.1:n.1415C>A
ENST00000361505.10:c.587C>A MANE Select	ENSP00000354532.6:p.Ala196Glu
ENST00000361505.9:c.587C>A	ENSP00000354532.5:p.Ala196Glu
ENST00000554056.5:n.895C>A
ENST00000556754.1:n.1804C>A
NM_000270.3:c.587C>A , LRG_91t1:c.587C>A	NP_000261.2:p.Ala196Glu
NM_000270.4:c.587C>A MANE Select	NP_000261.2:p.Ala196Glu