Canonical Allele Identifier: CA9752041

Gene: PRNP

Linked Data

• ClinVar Variation Id: 338649
• ClinVar RCV Id: RCV000398037
• dbSNP Id: rs62637686
• ExAC: 20:4680118 T / C
• gnomAD v2: 20-4680118-T-C
• gnomAD v3: 20-4699472-T-C
• gnomAD v4: 20-4699472-T-C
• MyVariant Identifiers: chr20:g.4680118T>C (hg19) ; chr20:g.4699472T>C (hg38)
• PubMed: PMID:25363760

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699472T>C , CM000682.2:g.4699472T>C	GRCh38
NC_000020.10:g.4680118T>C , CM000682.1:g.4680118T>C	GRCh37
NC_000020.9:g.4628118T>C	NCBI36
NG_009087.1:g.18322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.252T>C MANE Select	ENSP00000368752.4:p.Pro84=
ENST00000424424.2:c.252T>C	ENSP00000411599.2:p.Pro84=
ENST00000457586.2:c.252T>C	ENSP00000415284.2:p.Pro84=
ENST00000379440.8:c.252T>C	ENSP00000368752.4:p.Pro84=
ENST00000424424.1:c.252T>C	ENSP00000411599.1:p.Pro84=
ENST00000430350.2:c.252T>C	ENSP00000399376.2:p.Pro84=
ENST00000457586.1:c.252T>C	ENSP00000415284.1:p.Pro84=
NM_000311.3:c.252T>C	NP_000302.1:p.Pro84=
NM_001080121.1:c.252T>C	NP_001073590.1:p.Pro84=
NM_001080122.1:c.252T>C	NP_001073591.1:p.Pro84=
NM_001080123.1:c.252T>C	NP_001073592.1:p.Pro84=
NM_001271561.1:c.163T>C	NP_001258490.1:p.Ser55Pro
NM_183079.2:c.252T>C	NP_898902.1:p.Pro84=
NM_000311.4:c.252T>C	NP_000302.1:p.Pro84=
NM_001080121.2:c.252T>C	NP_001073590.1:p.Pro84=
NM_001080122.2:c.252T>C	NP_001073591.1:p.Pro84=
NM_001080123.2:c.252T>C	NP_001073592.1:p.Pro84=
NM_001271561.2:c.163T>C	NP_001258490.1:p.Ser55Pro
NM_183079.3:c.252T>C	NP_898902.1:p.Pro84=
NM_000311.5:c.252T>C MANE Select	NP_000302.1:p.Pro84=
NM_001080121.3:c.252T>C	NP_001073590.1:p.Pro84=
NM_001080122.3:c.252T>C	NP_001073591.1:p.Pro84=
NM_001080123.3:c.252T>C	NP_001073592.1:p.Pro84=
NM_001271561.3:c.163T>C	NP_001258490.1:p.Ser55Pro
NM_183079.4:c.252T>C	NP_898902.1:p.Pro84=