Canonical Allele Identifier: CA389144802

Gene: PNP

Linked Data

• dbSNP Id: rs199763463
• gnomAD v2: 14-20940628-G-C
• gnomAD v4: 14-20472469-G-C
• MyVariant Identifiers: chr14:g.20940628G>C (hg19) ; chr14:g.20472469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472469G>C , CM000676.2:g.20472469G>C	GRCh38
NC_000014.8:g.20940628G>C , CM000676.1:g.20940628G>C	GRCh37
NC_000014.7:g.20010468G>C	NCBI36
NG_009631.1:g.8087G>C , LRG_91:g.8087G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.290G>C	ENSP00000452421.2:p.Arg97Pro
ENST00000556293.6:n.292G>C
ENST00000556754.2:n.1235G>C
ENST00000557229.6:n.292G>C
ENST00000697613.1:c.173G>C	ENSP00000513359.1:p.Arg58Pro
ENST00000697614.1:c.-65G>C	ENSP00000513360.1:n.-65G>C
ENST00000697615.1:n.691G>C
ENST00000361505.10:c.173G>C MANE Select	ENSP00000354532.6:p.Arg58Pro
ENST00000361505.9:c.173G>C	ENSP00000354532.5:p.Arg58Pro
ENST00000553418.5:c.173G>C	ENSP00000450663.1:p.Arg58Pro
ENST00000553591.1:c.290G>C	ENSP00000452421.1:p.Arg97Pro
ENST00000554056.5:n.284G>C
ENST00000554065.1:c.-65G>C	ENSP00000451108.1:n.-65G>C
ENST00000556293.5:n.292G>C
ENST00000557229.5:n.292G>C
NM_000270.3:c.173G>C , LRG_91t1:c.173G>C	NP_000261.2:p.Arg58Pro
NM_000270.4:c.173G>C MANE Select	NP_000261.2:p.Arg58Pro