Canonical Allele Identifier: CA389145706

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943339A>G (hg19) ; chr14:g.20475180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475180A>G , CM000676.2:g.20475180A>G	GRCh38
NC_000014.8:g.20943339A>G , CM000676.1:g.20943339A>G	GRCh37
NC_000014.7:g.20013179A>G	NCBI36
NG_009631.1:g.10798A>G , LRG_91:g.10798A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.697A>G	ENSP00000452421.2:p.Met233Val
ENST00000556293.6:n.3003A>G
ENST00000556754.2:n.3946A>G
ENST00000557229.6:n.1009A>G
ENST00000697613.1:c.580A>G	ENSP00000513359.1:p.Met194Val
ENST00000697614.1:c.343A>G	ENSP00000513360.1:p.Met115Val
ENST00000697615.1:n.1408A>G
ENST00000361505.10:c.580A>G MANE Select	ENSP00000354532.6:p.Met194Val
ENST00000361505.9:c.580A>G	ENSP00000354532.5:p.Met194Val
ENST00000554056.5:n.888A>G
ENST00000556754.1:n.1797A>G
NM_000270.3:c.580A>G , LRG_91t1:c.580A>G	NP_000261.2:p.Met194Val
NM_000270.4:c.580A>G MANE Select	NP_000261.2:p.Met194Val