Canonical Allele Identifier: CA7082018

Gene: PNP

Linked Data

• ClinVar Variation Id: 1913327
• ClinVar RCV Id: RCV002608302
• dbSNP Id: rs774626138
• ExAC: 14:20940635 A / G
• gnomAD v2: 14-20940635-A-G
• gnomAD v3: 14-20472476-A-G
• gnomAD v4: 14-20472476-A-G
• MyVariant Identifiers: chr14:g.20940635A>G (hg19) ; chr14:g.20472476A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472476A>G , CM000676.2:g.20472476A>G	GRCh38
NC_000014.8:g.20940635A>G , CM000676.1:g.20940635A>G	GRCh37
NC_000014.7:g.20010475A>G	NCBI36
NG_009631.1:g.8094A>G , LRG_91:g.8094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.297A>G	ENSP00000452421.2:p.Thr99=
ENST00000556293.6:n.299A>G
ENST00000556754.2:n.1242A>G
ENST00000557229.6:n.299A>G
ENST00000697613.1:c.180A>G	ENSP00000513359.1:p.Thr60=
ENST00000697614.1:c.-58A>G	ENSP00000513360.1:n.-58A>G
ENST00000697615.1:n.698A>G
ENST00000361505.10:c.180A>G MANE Select	ENSP00000354532.6:p.Thr60=
ENST00000361505.9:c.180A>G	ENSP00000354532.5:p.Thr60=
ENST00000553418.5:c.180A>G	ENSP00000450663.1:p.Thr60=
ENST00000553591.1:c.297A>G	ENSP00000452421.1:p.Thr99=
ENST00000554056.5:n.291A>G
ENST00000554065.1:c.-58A>G	ENSP00000451108.1:n.-58A>G
ENST00000556293.5:n.299A>G
ENST00000557229.5:n.299A>G
NM_000270.3:c.180A>G , LRG_91t1:c.180A>G	NP_000261.2:p.Thr60=
NM_000270.4:c.180A>G MANE Select	NP_000261.2:p.Thr60=