Canonical Allele Identifier: CA7082003

Gene: PNP

Linked Data

• ClinVar Variation Id: 572933
• ClinVar RCV Id: RCV000694452
• dbSNP Id: rs763321970
• ExAC: 14:20940471 A / C
• gnomAD v2: 14-20940471-A-C
• gnomAD v3: 14-20472312-A-C
• gnomAD v4: 14-20472312-A-C
• MyVariant Identifiers: chr14:g.20940471A>C (hg19) ; chr14:g.20472312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472312A>C , CM000676.2:g.20472312A>C	GRCh38
NC_000014.8:g.20940471A>C , CM000676.1:g.20940471A>C	GRCh37
NC_000014.7:g.20010311A>C	NCBI36
NG_009631.1:g.7930A>C , LRG_91:g.7930A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.133A>C	ENSP00000452421.2:p.Thr45Pro
ENST00000556293.6:n.135A>C
ENST00000556754.2:n.1078A>C
ENST00000557229.6:n.135A>C
ENST00000697613.1:c.16A>C	ENSP00000513359.1:p.Thr6Pro
ENST00000697614.1:c.-222A>C	ENSP00000513360.1:n.-222A>C
ENST00000697615.1:n.534A>C
ENST00000361505.10:c.16A>C MANE Select	ENSP00000354532.6:p.Thr6Pro
ENST00000361505.9:c.16A>C	ENSP00000354532.5:p.Thr6Pro
ENST00000553418.5:c.16A>C	ENSP00000450663.1:p.Thr6Pro
ENST00000553591.1:c.133A>C	ENSP00000452421.1:p.Thr45Pro
ENST00000554056.5:n.127A>C
ENST00000554065.1:c.-222A>C	ENSP00000451108.1:n.-222A>C
ENST00000556293.5:n.135A>C
ENST00000557229.5:n.135A>C
NM_000270.3:c.16A>C , LRG_91t1:c.16A>C	NP_000261.2:p.Thr6Pro
NM_000270.4:c.16A>C MANE Select	NP_000261.2:p.Thr6Pro