Canonical Allele Identifier: CA389145700

Gene: PNP

Linked Data

• dbSNP Id: rs1882076120
• gnomAD v3: 14-20475177-G-A
• gnomAD v4: 14-20475177-G-A
• MyVariant Identifiers: chr14:g.20943336G>A (hg19) ; chr14:g.20475177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475177G>A , CM000676.2:g.20475177G>A	GRCh38
NC_000014.8:g.20943336G>A , CM000676.1:g.20943336G>A	GRCh37
NC_000014.7:g.20013176G>A	NCBI36
NG_009631.1:g.10795G>A , LRG_91:g.10795G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.694G>A	ENSP00000452421.2:p.Val232Met
ENST00000556293.6:n.3000G>A
ENST00000556754.2:n.3943G>A
ENST00000557229.6:n.1006G>A
ENST00000697613.1:c.577G>A	ENSP00000513359.1:p.Val193Met
ENST00000697614.1:c.340G>A	ENSP00000513360.1:p.Val114Met
ENST00000697615.1:n.1405G>A
ENST00000361505.10:c.577G>A MANE Select	ENSP00000354532.6:p.Val193Met
ENST00000361505.9:c.577G>A	ENSP00000354532.5:p.Val193Met
ENST00000554056.5:n.885G>A
ENST00000556754.1:n.1794G>A
NM_000270.3:c.577G>A , LRG_91t1:c.577G>A	NP_000261.2:p.Val193Met
NM_000270.4:c.577G>A MANE Select	NP_000261.2:p.Val193Met