Canonical Allele Identifier: CA9752026
Gene: PRNP HGNC NCBI

Linked Data

ClinVar Variation Id: 338647
dbSNP Id: rs532493114
gnomAD v2: 20-4680070-T-C
gnomAD v3: 20-4699424-T-C
gnomAD v4: 20-4699424-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4699424T>C , CM000682.2:g.4699424T>C GRCh38
NC_000020.10:g.4680070T>C , CM000682.1:g.4680070T>C GRCh37
NC_000020.9:g.4628070T>C NCBI36
NG_009087.1:g.18274T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379440.9:c.204T>C MANE Select ENSP00000368752.4:p.Pro68=
ENST00000424424.2:c.204T>C ENSP00000411599.2:p.Pro68=
ENST00000457586.2:c.204T>C ENSP00000415284.2:p.Pro68=
ENST00000379440.8:c.204T>C ENSP00000368752.4:p.Pro68=
ENST00000424424.1:c.204T>C ENSP00000411599.1:p.Pro68=
ENST00000430350.2:c.204T>C ENSP00000399376.2:p.Pro68=
ENST00000457586.1:c.204T>C ENSP00000415284.1:p.Pro68=
NM_000311.3:c.204T>C NP_000302.1:p.Pro68=
NM_001080121.1:c.204T>C NP_001073590.1:p.Pro68=
NM_001080122.1:c.204T>C NP_001073591.1:p.Pro68=
NM_001080123.1:c.204T>C NP_001073592.1:p.Pro68=
NM_001271561.1:c.115T>C NP_001258490.1:p.Ser39Pro
NM_183079.2:c.204T>C NP_898902.1:p.Pro68=
NM_000311.4:c.204T>C NP_000302.1:p.Pro68=
NM_001080121.2:c.204T>C NP_001073590.1:p.Pro68=
NM_001080122.2:c.204T>C NP_001073591.1:p.Pro68=
NM_001080123.2:c.204T>C NP_001073592.1:p.Pro68=
NM_001271561.2:c.115T>C NP_001258490.1:p.Ser39Pro
NM_183079.3:c.204T>C NP_898902.1:p.Pro68=
NM_000311.5:c.204T>C MANE Select NP_000302.1:p.Pro68=
NM_001080121.3:c.204T>C NP_001073590.1:p.Pro68=
NM_001080122.3:c.204T>C NP_001073591.1:p.Pro68=
NM_001080123.3:c.204T>C NP_001073592.1:p.Pro68=
NM_001271561.3:c.115T>C NP_001258490.1:p.Ser39Pro
NM_183079.4:c.204T>C NP_898902.1:p.Pro68=