Canonical Allele Identifier: CA9752023
Gene: PRNP HGNC NCBI

Linked Data

dbSNP Id: rs767207185
gnomAD v2: 20-4680055-T-A
gnomAD v4: 20-4699409-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4699409T>A , CM000682.2:g.4699409T>A GRCh38
NC_000020.10:g.4680055T>A , CM000682.1:g.4680055T>A GRCh37
NC_000020.9:g.4628055T>A NCBI36
NG_009087.1:g.18259T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379440.9:c.189T>A MANE Select ENSP00000368752.4:p.Gly63=
ENST00000424424.2:c.189T>A ENSP00000411599.2:p.Gly63=
ENST00000457586.2:c.189T>A ENSP00000415284.2:p.Gly63=
ENST00000379440.8:c.189T>A ENSP00000368752.4:p.Gly63=
ENST00000424424.1:c.189T>A ENSP00000411599.1:p.Gly63=
ENST00000430350.2:c.189T>A ENSP00000399376.2:p.Gly63=
ENST00000457586.1:c.189T>A ENSP00000415284.1:p.Gly63=
NM_000311.3:c.189T>A NP_000302.1:p.Gly63=
NM_001080121.1:c.189T>A NP_001073590.1:p.Gly63=
NM_001080122.1:c.189T>A NP_001073591.1:p.Gly63=
NM_001080123.1:c.189T>A NP_001073592.1:p.Gly63=
NM_001271561.1:c.100T>A NP_001258490.1:p.Trp34Arg
NM_183079.2:c.189T>A NP_898902.1:p.Gly63=
NM_000311.4:c.189T>A NP_000302.1:p.Gly63=
NM_001080121.2:c.189T>A NP_001073590.1:p.Gly63=
NM_001080122.2:c.189T>A NP_001073591.1:p.Gly63=
NM_001080123.2:c.189T>A NP_001073592.1:p.Gly63=
NM_001271561.2:c.100T>A NP_001258490.1:p.Trp34Arg
NM_183079.3:c.189T>A NP_898902.1:p.Gly63=
NM_000311.5:c.189T>A MANE Select NP_000302.1:p.Gly63=
NM_001080121.3:c.189T>A NP_001073590.1:p.Gly63=
NM_001080122.3:c.189T>A NP_001073591.1:p.Gly63=
NM_001080123.3:c.189T>A NP_001073592.1:p.Gly63=
NM_001271561.3:c.100T>A NP_001258490.1:p.Trp34Arg
NM_183079.4:c.189T>A NP_898902.1:p.Gly63=