Canonical Allele Identifier: CA256781
Gene: PRNP HGNC NCBI

Linked Data

ClinVar Variation Id: 13403
dbSNP Id: rs74315407
gnomAD v2: 20-4680494-G-A
gnomAD v3: 20-4699848-G-A
gnomAD v4: 20-4699848-G-A

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