Canonical Allele Identifier: CA256781

Gene: PRNP

Linked Data

• ClinVar Variation Id: 13403
• ClinVar RCV Id: RCV000014342 ; RCV000532969 ; RCV002476962 ; RCV004018625
• dbSNP Id: rs74315407
• ExAC: 20:4680494 G / A
• gnomAD v2: 20-4680494-G-A
• gnomAD v3: 20-4699848-G-A
• gnomAD v4: 20-4699848-G-A
• MyVariant Identifiers: chr20:g.4680494G>A (hg19) ; chr20:g.4699848G>A (hg38)
• PubMed: PMID:7902693 ; PMID:10526198 ; PMID:20301407 ; PMID:26791950

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699848G>A , CM000682.2:g.4699848G>A	GRCh38
NC_000020.10:g.4680494G>A , CM000682.1:g.4680494G>A	GRCh37
NC_000020.9:g.4628494G>A	NCBI36
NG_009087.1:g.18698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.628G>A MANE Select	ENSP00000368752.4:p.Val210Ile
ENST00000424424.2:c.628G>A	ENSP00000411599.2:p.Val210Ile
ENST00000457586.2:c.628G>A	ENSP00000415284.2:p.Val210Ile
ENST00000379440.8:c.628G>A	ENSP00000368752.4:p.Val210Ile
ENST00000424424.1:c.628G>A	ENSP00000411599.1:p.Val210Ile
ENST00000430350.2:c.628G>A	ENSP00000399376.2:p.Val210Ile
ENST00000457586.1:c.628G>A	ENSP00000415284.1:p.Val210Ile
NM_000311.3:c.628G>A	NP_000302.1:p.Val210Ile
NM_001080121.1:c.628G>A	NP_001073590.1:p.Val210Ile
NM_001080122.1:c.628G>A	NP_001073591.1:p.Val210Ile
NM_001080123.1:c.628G>A	NP_001073592.1:p.Val210Ile
NM_001271561.1:c.*317G>A	NP_001258490.1:n.*317G>A
NM_183079.2:c.628G>A	NP_898902.1:p.Val210Ile
NM_000311.4:c.628G>A	NP_000302.1:p.Val210Ile
NM_001080121.2:c.628G>A	NP_001073590.1:p.Val210Ile
NM_001080122.2:c.628G>A	NP_001073591.1:p.Val210Ile
NM_001080123.2:c.628G>A	NP_001073592.1:p.Val210Ile
NM_001271561.2:c.*317G>A	NP_001258490.1:n.*317G>A
NM_183079.3:c.628G>A	NP_898902.1:p.Val210Ile
NM_000311.5:c.628G>A MANE Select	NP_000302.1:p.Val210Ile
NM_001080121.3:c.628G>A	NP_001073590.1:p.Val210Ile
NM_001080122.3:c.628G>A	NP_001073591.1:p.Val210Ile
NM_001080123.3:c.628G>A	NP_001073592.1:p.Val210Ile
NM_001271561.3:c.*317G>A	NP_001258490.1:n.*317G>A
NM_183079.4:c.628G>A	NP_898902.1:p.Val210Ile