Canonical Allele Identifier: CA256785

Gene: PRNP

Linked Data

• ClinVar Variation Id: 13411
• ClinVar RCV Id: RCV000014352 ; RCV001851853 ; RCV001823096 ; RCV002468968
• dbSNP Id: rs74315412
• ExAC: 20:4680489 G / A
• gnomAD v2: 20-4680489-G-A
• gnomAD v3: 20-4699843-G-A
• gnomAD v4: 20-4699843-G-A
• MyVariant Identifiers: chr20:g.4680489G>A (hg19) ; chr20:g.4699843G>A (hg38)
• PubMed: PMID:8909447 ; PMID:15753435 ; PMID:16533975 ; PMID:20301407 ; PMID:26791950

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699843G>A , CM000682.2:g.4699843G>A	GRCh38
NC_000020.10:g.4680489G>A , CM000682.1:g.4680489G>A	GRCh37
NC_000020.9:g.4628489G>A	NCBI36
NG_009087.1:g.18693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.623G>A MANE Select	ENSP00000368752.4:p.Arg208His
ENST00000424424.2:c.623G>A	ENSP00000411599.2:p.Arg208His
ENST00000457586.2:c.623G>A	ENSP00000415284.2:p.Arg208His
ENST00000379440.8:c.623G>A	ENSP00000368752.4:p.Arg208His
ENST00000424424.1:c.623G>A	ENSP00000411599.1:p.Arg208His
ENST00000430350.2:c.623G>A	ENSP00000399376.2:p.Arg208His
ENST00000457586.1:c.623G>A	ENSP00000415284.1:p.Arg208His
NM_000311.3:c.623G>A	NP_000302.1:p.Arg208His
NM_001080121.1:c.623G>A	NP_001073590.1:p.Arg208His
NM_001080122.1:c.623G>A	NP_001073591.1:p.Arg208His
NM_001080123.1:c.623G>A	NP_001073592.1:p.Arg208His
NM_001271561.1:c.*312G>A	NP_001258490.1:n.*312G>A
NM_183079.2:c.623G>A	NP_898902.1:p.Arg208His
NM_000311.4:c.623G>A	NP_000302.1:p.Arg208His
NM_001080121.2:c.623G>A	NP_001073590.1:p.Arg208His
NM_001080122.2:c.623G>A	NP_001073591.1:p.Arg208His
NM_001080123.2:c.623G>A	NP_001073592.1:p.Arg208His
NM_001271561.2:c.*312G>A	NP_001258490.1:n.*312G>A
NM_183079.3:c.623G>A	NP_898902.1:p.Arg208His
NM_000311.5:c.623G>A MANE Select	NP_000302.1:p.Arg208His
NM_001080121.3:c.623G>A	NP_001073590.1:p.Arg208His
NM_001080122.3:c.623G>A	NP_001073591.1:p.Arg208His
NM_001080123.3:c.623G>A	NP_001073592.1:p.Arg208His
NM_001271561.3:c.*312G>A	NP_001258490.1:n.*312G>A
NM_183079.4:c.623G>A	NP_898902.1:p.Arg208His