Canonical Allele Identifier: CA7082151

Gene: PNP

Linked Data

• ClinVar Variation Id: 1434069
• ClinVar RCV Id: RCV001946241
• dbSNP Id: rs774704206
• ExAC: 14:20943250 A / G
• gnomAD v2: 14-20943250-A-G
• gnomAD v3: 14-20475091-A-G
• gnomAD v4: 14-20475091-A-G
• MyVariant Identifiers: chr14:g.20943250A>G (hg19) ; chr14:g.20475091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475091A>G , CM000676.2:g.20475091A>G	GRCh38
NC_000014.8:g.20943250A>G , CM000676.1:g.20943250A>G	GRCh37
NC_000014.7:g.20013090A>G	NCBI36
NG_009631.1:g.10709A>G , LRG_91:g.10709A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.608A>G	ENSP00000452421.2:p.Asp203Gly
ENST00000556293.6:n.2914A>G
ENST00000556754.2:n.3857A>G
ENST00000557229.6:n.920A>G
ENST00000697613.1:c.491A>G	ENSP00000513359.1:p.Asp164Gly
ENST00000697614.1:c.254A>G	ENSP00000513360.1:p.Asp85Gly
ENST00000697615.1:n.1319A>G
ENST00000361505.10:c.491A>G MANE Select	ENSP00000354532.6:p.Asp164Gly
ENST00000361505.9:c.491A>G	ENSP00000354532.5:p.Asp164Gly
ENST00000553591.1:c.608A>G	ENSP00000452421.1:p.Asp203Gly
ENST00000554056.5:n.799A>G
ENST00000556754.1:n.1708A>G
ENST00000557229.5:n.920A>G
NM_000270.3:c.491A>G , LRG_91t1:c.491A>G	NP_000261.2:p.Asp164Gly
NM_000270.4:c.491A>G MANE Select	NP_000261.2:p.Asp164Gly