Canonical Allele Identifier: CA9752025

Gene: PRNP

Linked Data

• ClinVar Variation Id: 453304
• ClinVar RCV Id: RCV000536485
• dbSNP Id: rs750069679
• ExAC: 20:4680064 G / A
• gnomAD v2: 20-4680064-G-A
• gnomAD v4: 20-4699418-G-A
• MyVariant Identifiers: chr20:g.4680064G>A (hg19) ; chr20:g.4680064_4680112delinsACAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA (hg19) ; chr20:g.4699418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699418G>A , CM000682.2:g.4699418G>A	GRCh38
NC_000020.10:g.4680064G>A , CM000682.1:g.4680064G>A	GRCh37
NC_000020.9:g.4628064G>A	NCBI36
NG_009087.1:g.18268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.198G>A MANE Select	ENSP00000368752.4:p.Gly66=
ENST00000424424.2:c.198G>A	ENSP00000411599.2:p.Gly66=
ENST00000457586.2:c.198G>A	ENSP00000415284.2:p.Gly66=
ENST00000379440.8:c.198G>A	ENSP00000368752.4:p.Gly66=
ENST00000424424.1:c.198G>A	ENSP00000411599.1:p.Gly66=
ENST00000430350.2:c.198G>A	ENSP00000399376.2:p.Gly66=
ENST00000457586.1:c.198G>A	ENSP00000415284.1:p.Gly66=
NM_000311.3:c.198G>A	NP_000302.1:p.Gly66=
NM_001080121.1:c.198G>A	NP_001073590.1:p.Gly66=
NM_001080122.1:c.198G>A	NP_001073591.1:p.Gly66=
NM_001080123.1:c.198G>A	NP_001073592.1:p.Gly66=
NM_001271561.1:c.109G>A	NP_001258490.1:p.Ala37Thr
NM_183079.2:c.198G>A	NP_898902.1:p.Gly66=
NM_000311.4:c.198G>A	NP_000302.1:p.Gly66=
NM_001080121.2:c.198G>A	NP_001073590.1:p.Gly66=
NM_001080122.2:c.198G>A	NP_001073591.1:p.Gly66=
NM_001080123.2:c.198G>A	NP_001073592.1:p.Gly66=
NM_001271561.2:c.109G>A	NP_001258490.1:p.Ala37Thr
NM_183079.3:c.198G>A	NP_898902.1:p.Gly66=
NM_000311.5:c.198G>A MANE Select	NP_000302.1:p.Gly66=
NM_001080121.3:c.198G>A	NP_001073590.1:p.Gly66=
NM_001080122.3:c.198G>A	NP_001073591.1:p.Gly66=
NM_001080123.3:c.198G>A	NP_001073592.1:p.Gly66=
NM_001271561.3:c.109G>A	NP_001258490.1:p.Ala37Thr
NM_183079.4:c.198G>A	NP_898902.1:p.Gly66=