Canonical Allele Identifier: CA123096

Gene: PRNP

Linked Data

• ClinVar Variation Id: 13412
• ClinVar RCV Id: RCV000014353 ; RCV000014354
• dbSNP Id: rs74315413
• MyVariant Identifiers: chr20:g.4680426A>G (hg19) ; chr20:g.4699780A>G (hg38)
• PubMed: PMID:10581485 ; PMID:10953183 ; PMID:15824374 ; PMID:20301407

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699780A>G , CM000682.2:g.4699780A>G	GRCh38
NC_000020.10:g.4680426A>G , CM000682.1:g.4680426A>G	GRCh37
NC_000020.9:g.4628426A>G	NCBI36
NG_009087.1:g.18630A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379440.9:c.560A>G MANE Select	ENSP00000368752.4:p.His187Arg
ENST00000424424.2:c.560A>G	ENSP00000411599.2:p.His187Arg
ENST00000457586.2:c.560A>G	ENSP00000415284.2:p.His187Arg
ENST00000379440.8:c.560A>G	ENSP00000368752.4:p.His187Arg
ENST00000424424.1:c.560A>G	ENSP00000411599.1:p.His187Arg
ENST00000430350.2:c.560A>G	ENSP00000399376.2:p.His187Arg
ENST00000457586.1:c.560A>G	ENSP00000415284.1:p.His187Arg
NM_000311.3:c.560A>G	NP_000302.1:p.His187Arg
NM_001080121.1:c.560A>G	NP_001073590.1:p.His187Arg
NM_001080122.1:c.560A>G	NP_001073591.1:p.His187Arg
NM_001080123.1:c.560A>G	NP_001073592.1:p.His187Arg
NM_001271561.1:c.*249A>G	NP_001258490.1:n.*249A>G
NM_183079.2:c.560A>G	NP_898902.1:p.His187Arg
NM_000311.4:c.560A>G	NP_000302.1:p.His187Arg
NM_001080121.2:c.560A>G	NP_001073590.1:p.His187Arg
NM_001080122.2:c.560A>G	NP_001073591.1:p.His187Arg
NM_001080123.2:c.560A>G	NP_001073592.1:p.His187Arg
NM_001271561.2:c.*249A>G	NP_001258490.1:n.*249A>G
NM_183079.3:c.560A>G	NP_898902.1:p.His187Arg
NM_000311.5:c.560A>G MANE Select	NP_000302.1:p.His187Arg
NM_001080121.3:c.560A>G	NP_001073590.1:p.His187Arg
NM_001080122.3:c.560A>G	NP_001073591.1:p.His187Arg
NM_001080123.3:c.560A>G	NP_001073592.1:p.His187Arg
NM_001271561.3:c.*249A>G	NP_001258490.1:n.*249A>G
NM_183079.4:c.560A>G	NP_898902.1:p.His187Arg