Canonical Allele Identifier: CA389145494

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943238C>A (hg19) ; chr14:g.20475079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475079C>A , CM000676.2:g.20475079C>A	GRCh38
NC_000014.8:g.20943238C>A , CM000676.1:g.20943238C>A	GRCh37
NC_000014.7:g.20013078C>A	NCBI36
NG_009631.1:g.10697C>A , LRG_91:g.10697C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.596C>A	ENSP00000452421.2:p.Pro199His
ENST00000556293.6:n.2902C>A
ENST00000556754.2:n.3845C>A
ENST00000557229.6:n.908C>A
ENST00000697613.1:c.479C>A	ENSP00000513359.1:p.Pro160His
ENST00000697614.1:c.242C>A	ENSP00000513360.1:p.Pro81His
ENST00000697615.1:n.1307C>A
ENST00000361505.10:c.479C>A MANE Select	ENSP00000354532.6:p.Pro160His
ENST00000361505.9:c.479C>A	ENSP00000354532.5:p.Pro160His
ENST00000553591.1:c.596C>A	ENSP00000452421.1:p.Pro199His
ENST00000554056.5:n.787C>A
ENST00000556754.1:n.1696C>A
ENST00000557229.5:n.908C>A
NM_000270.3:c.479C>A , LRG_91t1:c.479C>A	NP_000261.2:p.Pro160His
NM_000270.4:c.479C>A MANE Select	NP_000261.2:p.Pro160His