Canonical Allele Identifier: CA9752026

Gene: PRNP

Linked Data

• ClinVar Variation Id: 338647
• ClinVar RCV Id: RCV000383267 ; RCV000874283 ; RCV001580001
• dbSNP Id: rs532493114
• ExAC: 20:4680070 T / C
• gnomAD v2: 20-4680070-T-C
• gnomAD v3: 20-4699424-T-C
• gnomAD v4: 20-4699424-T-C
• MyVariant Identifiers: chr20:g.4680070T>C (hg19) ; chr20:g.4680070_4680094delinsCCATGGTGGTGGCTGGGGGCAGCCC (hg19) ; chr20:g.4699424T>C (hg38) ; chr20:g.4699424_4699448delinsCCATGGTGGTGGCTGGGGGCAGCCC (hg38)

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=