Canonical Allele Identifier: CA123675

Gene: PNP

Linked Data

• ClinVar Variation Id: 13991
• ClinVar RCV Id: RCV000015028 ; RCV000419921 ; RCV002298444
• dbSNP Id: rs104894451
• ExAC: 14:20944591 G / C
• gnomAD v2: 14-20944591-G-C
• gnomAD v3: 14-20476432-G-C
• gnomAD v4: 14-20476432-G-C
• MyVariant Identifiers: chr14:g.20944591G>C (hg19) ; chr14:g.20476432G>C (hg38)
• PubMed: PMID:1384322 ; PMID:9067751

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20476432G>C , CM000676.2:g.20476432G>C	GRCh38
NC_000014.8:g.20944591G>C , CM000676.1:g.20944591G>C	GRCh37
NC_000014.7:g.20014431G>C	NCBI36
NG_009631.1:g.12050G>C , LRG_91:g.12050G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.818G>C	ENSP00000452421.2:p.Arg273Pro
ENST00000556293.6:n.3124G>C
ENST00000556754.2:n.4067G>C
ENST00000557229.6:n.1130G>C
ENST00000697613.1:c.701G>C	ENSP00000513359.1:p.Arg234Pro
ENST00000697614.1:c.464G>C	ENSP00000513360.1:p.Arg155Pro
ENST00000697615.1:n.1529G>C
ENST00000361505.10:c.701G>C MANE Select	ENSP00000354532.6:p.Arg234Pro
ENST00000361505.9:c.701G>C	ENSP00000354532.5:p.Arg234Pro
ENST00000554056.5:n.1009G>C
ENST00000556754.1:n.1918G>C
NM_000270.3:c.701G>C , LRG_91t1:c.701G>C	NP_000261.2:p.Arg234Pro
NM_000270.4:c.701G>C MANE Select	NP_000261.2:p.Arg234Pro