Canonical Allele Identifier: CA389145738

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943354A>T (hg19) ; chr14:g.20475195A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475195A>T , CM000676.2:g.20475195A>T	GRCh38
NC_000014.8:g.20943354A>T , CM000676.1:g.20943354A>T	GRCh37
NC_000014.7:g.20013194A>T	NCBI36
NG_009631.1:g.10813A>T , LRG_91:g.10813A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.712A>T	ENSP00000452421.2:p.Ser238Cys
ENST00000556293.6:n.3018A>T
ENST00000556754.2:n.3961A>T
ENST00000557229.6:n.1024A>T
ENST00000697613.1:c.595A>T	ENSP00000513359.1:p.Ser199Cys
ENST00000697614.1:c.358A>T	ENSP00000513360.1:p.Ser120Cys
ENST00000697615.1:n.1423A>T
ENST00000361505.10:c.595A>T MANE Select	ENSP00000354532.6:p.Ser199Cys
ENST00000361505.9:c.595A>T	ENSP00000354532.5:p.Ser199Cys
ENST00000554056.5:n.903A>T
ENST00000556754.1:n.1812A>T
NM_000270.3:c.595A>T , LRG_91t1:c.595A>T	NP_000261.2:p.Ser199Cys
NM_000270.4:c.595A>T MANE Select	NP_000261.2:p.Ser199Cys