Canonical Allele Identifier: CA10652598

Gene: PRNP

Linked Data

• ClinVar Variation Id: 338673
• ClinVar RCV Id: RCV000308027
• dbSNP Id: rs150850205
• gnomAD v2: 20-4682040-T-A
• gnomAD v3: 20-4701394-T-A
• gnomAD v4: 20-4701394-T-A
• MyVariant Identifiers: chr20:g.4682040T>A (hg19) ; chr20:g.4701394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4701394T>A , CM000682.2:g.4701394T>A	GRCh38
NC_000020.10:g.4682040T>A , CM000682.1:g.4682040T>A	GRCh37
NC_000020.9:g.4630040T>A	NCBI36
NG_009087.1:g.20244T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.*1412T>A MANE Select	ENSP00000368752.4:n.*1412T>A
ENST00000424424.2:c.*1412T>A	ENSP00000411599.2:n.*1412T>A
ENST00000457586.2:c.*1412T>A	ENSP00000415284.2:n.*1412T>A
ENST00000379440.8:c.*1412T>A	ENSP00000368752.4:n.*1412T>A
ENST00000430350.2:c.*1412T>A	ENSP00000399376.2:n.*1412T>A
NM_000311.3:c.*1412T>A	NP_000302.1:n.*1412T>A
NM_001080121.1:c.*1412T>A	NP_001073590.1:n.*1412T>A
NM_001080122.1:c.*1412T>A	NP_001073591.1:n.*1412T>A
NM_001080123.1:c.*1412T>A	NP_001073592.1:n.*1412T>A
NM_001271561.1:c.*1863T>A	NP_001258490.1:n.*1863T>A
NM_183079.2:c.*1412T>A	NP_898902.1:n.*1412T>A
NM_000311.4:c.*1412T>A	NP_000302.1:n.*1412T>A
NM_001080121.2:c.*1412T>A	NP_001073590.1:n.*1412T>A
NM_001080122.2:c.*1412T>A	NP_001073591.1:n.*1412T>A
NM_001080123.2:c.*1412T>A	NP_001073592.1:n.*1412T>A
NM_001271561.2:c.*1863T>A	NP_001258490.1:n.*1863T>A
NM_183079.3:c.*1412T>A	NP_898902.1:n.*1412T>A
NM_000311.5:c.*1412T>A MANE Select	NP_000302.1:n.*1412T>A
NM_001080121.3:c.*1412T>A	NP_001073590.1:n.*1412T>A
NM_001080122.3:c.*1412T>A	NP_001073591.1:n.*1412T>A
NM_001080123.3:c.*1412T>A	NP_001073592.1:n.*1412T>A
NM_001271561.3:c.*1863T>A	NP_001258490.1:n.*1863T>A
NM_183079.4:c.*1412T>A	NP_898902.1:n.*1412T>A