Canonical Allele Identifier: CA123094

Gene: PRNP

Linked Data

• ClinVar Variation Id: 13409
• ClinVar RCV Id: RCV000014350 ; RCV000020257 ; RCV000873683 ; RCV001573203
• dbSNP Id: rs1800014
• ExAC: 20:4680521 G / A
• gnomAD v2: 20-4680521-G-A
• gnomAD v3: 20-4699875-G-A
• gnomAD v4: 20-4699875-G-A
• MyVariant Identifiers: chr20:g.4680521G>A (hg19) ; chr20:g.4699875G>A (hg38)
• PubMed: PMID:9482303 ; PMID:12815603 ; PMID:15557533 ; PMID:16217673 ; PMID:20301407 ; PMID:20697057 ; PMID:22108575

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699875G>A , CM000682.2:g.4699875G>A	GRCh38
NC_000020.10:g.4680521G>A , CM000682.1:g.4680521G>A	GRCh37
NC_000020.9:g.4628521G>A	NCBI36
NG_009087.1:g.18725G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379440.9:c.655G>A MANE Select	ENSP00000368752.4:p.Glu219Lys
ENST00000424424.2:c.655G>A	ENSP00000411599.2:p.Glu219Lys
ENST00000457586.2:c.655G>A	ENSP00000415284.2:p.Glu219Lys
ENST00000379440.8:c.655G>A	ENSP00000368752.4:p.Glu219Lys
ENST00000424424.1:c.655G>A	ENSP00000411599.1:p.Glu219Lys
ENST00000430350.2:c.655G>A	ENSP00000399376.2:p.Glu219Lys
NM_000311.3:c.655G>A	NP_000302.1:p.Glu219Lys
NM_001080121.1:c.655G>A	NP_001073590.1:p.Glu219Lys
NM_001080122.1:c.655G>A	NP_001073591.1:p.Glu219Lys
NM_001080123.1:c.655G>A	NP_001073592.1:p.Glu219Lys
NM_001271561.1:c.*344G>A	NP_001258490.1:n.*344G>A
NM_183079.2:c.655G>A	NP_898902.1:p.Glu219Lys
NM_000311.4:c.655G>A	NP_000302.1:p.Glu219Lys
NM_001080121.2:c.655G>A	NP_001073590.1:p.Glu219Lys
NM_001080122.2:c.655G>A	NP_001073591.1:p.Glu219Lys
NM_001080123.2:c.655G>A	NP_001073592.1:p.Glu219Lys
NM_001271561.2:c.*344G>A	NP_001258490.1:n.*344G>A
NM_183079.3:c.655G>A	NP_898902.1:p.Glu219Lys
NM_000311.5:c.655G>A MANE Select	NP_000302.1:p.Glu219Lys
NM_001080121.3:c.655G>A	NP_001073590.1:p.Glu219Lys
NM_001080122.3:c.655G>A	NP_001073591.1:p.Glu219Lys
NM_001080123.3:c.655G>A	NP_001073592.1:p.Glu219Lys
NM_001271561.3:c.*344G>A	NP_001258490.1:n.*344G>A
NM_183079.4:c.655G>A	NP_898902.1:p.Glu219Lys