Canonical Allele Identifier: CA9752058
Gene: PRNP HGNC NCBI

Linked Data

ClinVar Variation Id: 338651
dbSNP Id: rs201423990
gnomAD v2: 20-4680238-C-G
gnomAD v3: 20-4699592-C-G
gnomAD v4: 20-4699592-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4699592C>G , CM000682.2:g.4699592C>G GRCh38
NC_000020.10:g.4680238C>G , CM000682.1:g.4680238C>G GRCh37
NC_000020.9:g.4628238C>G NCBI36
NG_009087.1:g.18442C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379440.9:c.372C>G MANE Select ENSP00000368752.4:p.Gly124=
ENST00000424424.2:c.372C>G ENSP00000411599.2:p.Gly124=
ENST00000457586.2:c.372C>G ENSP00000415284.2:p.Gly124=
ENST00000379440.8:c.372C>G ENSP00000368752.4:p.Gly124=
ENST00000424424.1:c.372C>G ENSP00000411599.1:p.Gly124=
ENST00000430350.2:c.372C>G ENSP00000399376.2:p.Gly124=
ENST00000457586.1:c.372C>G ENSP00000415284.1:p.Gly124=
NM_000311.3:c.372C>G NP_000302.1:p.Gly124=
NM_001080121.1:c.372C>G NP_001073590.1:p.Gly124=
NM_001080122.1:c.372C>G NP_001073591.1:p.Gly124=
NM_001080123.1:c.372C>G NP_001073592.1:p.Gly124=
NM_001271561.1:c.*61C>G NP_001258490.1:n.*61C>G
NM_183079.2:c.372C>G NP_898902.1:p.Gly124=
NM_000311.4:c.372C>G NP_000302.1:p.Gly124=
NM_001080121.2:c.372C>G NP_001073590.1:p.Gly124=
NM_001080122.2:c.372C>G NP_001073591.1:p.Gly124=
NM_001080123.2:c.372C>G NP_001073592.1:p.Gly124=
NM_001271561.2:c.*61C>G NP_001258490.1:n.*61C>G
NM_183079.3:c.372C>G NP_898902.1:p.Gly124=
NM_000311.5:c.372C>G MANE Select NP_000302.1:p.Gly124=
NM_001080121.3:c.372C>G NP_001073590.1:p.Gly124=
NM_001080122.3:c.372C>G NP_001073591.1:p.Gly124=
NM_001080123.3:c.372C>G NP_001073592.1:p.Gly124=
NM_001271561.3:c.*61C>G NP_001258490.1:n.*61C>G
NM_183079.4:c.372C>G NP_898902.1:p.Gly124=