Canonical Allele Identifier: CA256778

Gene: PRNP

Linked Data

• ClinVar Variation Id: 13398
• ClinVar RCV Id: RCV000014334 ; RCV000014335 ; RCV000644587 ; RCV001310451
• dbSNP Id: rs28933385
• gnomAD v2: 20-4680464-G-A
• gnomAD v4: 20-4699818-G-A
• MyVariant Identifiers: chr20:g.4680464G>A (hg19) ; chr20:g.4699818G>A (hg38)
• PubMed: PMID:1351274 ; PMID:1404799 ; PMID:1469441 ; PMID:1684755 ; PMID:1684758 ; PMID:1798423 ; PMID:1975028 ; PMID:2008182 ; PMID:2253724 ; PMID:2572450 ; PMID:7916462 ; PMID:7936296 ; PMID:7999318 ; PMID:8105682 ; PMID:8618678 ; PMID:9279329 ; PMID:10090891 ; PMID:10665501 ; PMID:10889050 ; PMID:11839833 ; PMID:20301407 ; PMID:25279981

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699818G>A , CM000682.2:g.4699818G>A	GRCh38
NC_000020.10:g.4680464G>A , CM000682.1:g.4680464G>A	GRCh37
NC_000020.9:g.4628464G>A	NCBI36
NG_009087.1:g.18668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.598G>A MANE Select	ENSP00000368752.4:p.Glu200Lys
ENST00000424424.2:c.598G>A	ENSP00000411599.2:p.Glu200Lys
ENST00000457586.2:c.598G>A	ENSP00000415284.2:p.Glu200Lys
ENST00000379440.8:c.598G>A	ENSP00000368752.4:p.Glu200Lys
ENST00000424424.1:c.598G>A	ENSP00000411599.1:p.Glu200Lys
ENST00000430350.2:c.598G>A	ENSP00000399376.2:p.Glu200Lys
ENST00000457586.1:c.598G>A	ENSP00000415284.1:p.Glu200Lys
NM_000311.3:c.598G>A	NP_000302.1:p.Glu200Lys
NM_001080121.1:c.598G>A	NP_001073590.1:p.Glu200Lys
NM_001080122.1:c.598G>A	NP_001073591.1:p.Glu200Lys
NM_001080123.1:c.598G>A	NP_001073592.1:p.Glu200Lys
NM_001271561.1:c.*287G>A	NP_001258490.1:n.*287G>A
NM_183079.2:c.598G>A	NP_898902.1:p.Glu200Lys
NM_000311.4:c.598G>A	NP_000302.1:p.Glu200Lys
NM_001080121.2:c.598G>A	NP_001073590.1:p.Glu200Lys
NM_001080122.2:c.598G>A	NP_001073591.1:p.Glu200Lys
NM_001080123.2:c.598G>A	NP_001073592.1:p.Glu200Lys
NM_001271561.2:c.*287G>A	NP_001258490.1:n.*287G>A
NM_183079.3:c.598G>A	NP_898902.1:p.Glu200Lys
NM_000311.5:c.598G>A MANE Select	NP_000302.1:p.Glu200Lys
NM_001080121.3:c.598G>A	NP_001073590.1:p.Glu200Lys
NM_001080122.3:c.598G>A	NP_001073591.1:p.Glu200Lys
NM_001080123.3:c.598G>A	NP_001073592.1:p.Glu200Lys
NM_001271561.3:c.*287G>A	NP_001258490.1:n.*287G>A
NM_183079.4:c.598G>A	NP_898902.1:p.Glu200Lys