Canonical Allele Identifier: CA389145526

Gene: PNP

Linked Data

• gnomAD v4: 14-20475094-C-T
• MyVariant Identifiers: chr14:g.20943253C>T (hg19) ; chr14:g.20475094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475094C>T , CM000676.2:g.20475094C>T	GRCh38
NC_000014.8:g.20943253C>T , CM000676.1:g.20943253C>T	GRCh37
NC_000014.7:g.20013093C>T	NCBI36
NG_009631.1:g.10712C>T , LRG_91:g.10712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.611C>T	ENSP00000452421.2:p.Ala204Val
ENST00000556293.6:n.2917C>T
ENST00000556754.2:n.3860C>T
ENST00000557229.6:n.923C>T
ENST00000697613.1:c.494C>T	ENSP00000513359.1:p.Ala165Val
ENST00000697614.1:c.257C>T	ENSP00000513360.1:p.Ala86Val
ENST00000697615.1:n.1322C>T
ENST00000361505.10:c.494C>T MANE Select	ENSP00000354532.6:p.Ala165Val
ENST00000361505.9:c.494C>T	ENSP00000354532.5:p.Ala165Val
ENST00000553591.1:c.611C>T	ENSP00000452421.1:p.Ala204Val
ENST00000554056.5:n.802C>T
ENST00000556754.1:n.1711C>T
ENST00000557229.5:n.923C>T
NM_000270.3:c.494C>T , LRG_91t1:c.494C>T	NP_000261.2:p.Ala165Val
NM_000270.4:c.494C>T MANE Select	NP_000261.2:p.Ala165Val