Canonical Allele Identifier: CA9752056

Gene: PRNP

Linked Data

• dbSNP Id: rs752571244
• ExAC: 20:4680231 T / G
• gnomAD v2: 20-4680231-T-G
• gnomAD v3: 20-4699585-T-G
• gnomAD v4: 20-4699585-T-G
• MyVariant Identifiers: chr20:g.4680231T>G (hg19) ; chr20:g.4699585T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699585T>G , CM000682.2:g.4699585T>G	GRCh38
NC_000020.10:g.4680231T>G , CM000682.1:g.4680231T>G	GRCh37
NC_000020.9:g.4628231T>G	NCBI36
NG_009087.1:g.18435T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.365T>G MANE Select	ENSP00000368752.4:p.Val122Gly
ENST00000424424.2:c.365T>G	ENSP00000411599.2:p.Val122Gly
ENST00000457586.2:c.365T>G	ENSP00000415284.2:p.Val122Gly
ENST00000379440.8:c.365T>G	ENSP00000368752.4:p.Val122Gly
ENST00000424424.1:c.365T>G	ENSP00000411599.1:p.Val122Gly
ENST00000430350.2:c.365T>G	ENSP00000399376.2:p.Val122Gly
ENST00000457586.1:c.365T>G	ENSP00000415284.1:p.Val122Gly
NM_000311.3:c.365T>G	NP_000302.1:p.Val122Gly
NM_001080121.1:c.365T>G	NP_001073590.1:p.Val122Gly
NM_001080122.1:c.365T>G	NP_001073591.1:p.Val122Gly
NM_001080123.1:c.365T>G	NP_001073592.1:p.Val122Gly
NM_001271561.1:c.*54T>G	NP_001258490.1:n.*54T>G
NM_183079.2:c.365T>G	NP_898902.1:p.Val122Gly
NM_000311.4:c.365T>G	NP_000302.1:p.Val122Gly
NM_001080121.2:c.365T>G	NP_001073590.1:p.Val122Gly
NM_001080122.2:c.365T>G	NP_001073591.1:p.Val122Gly
NM_001080123.2:c.365T>G	NP_001073592.1:p.Val122Gly
NM_001271561.2:c.*54T>G	NP_001258490.1:n.*54T>G
NM_183079.3:c.365T>G	NP_898902.1:p.Val122Gly
NM_000311.5:c.365T>G MANE Select	NP_000302.1:p.Val122Gly
NM_001080121.3:c.365T>G	NP_001073590.1:p.Val122Gly
NM_001080122.3:c.365T>G	NP_001073591.1:p.Val122Gly
NM_001080123.3:c.365T>G	NP_001073592.1:p.Val122Gly
NM_001271561.3:c.*54T>G	NP_001258490.1:n.*54T>G
NM_183079.4:c.365T>G	NP_898902.1:p.Val122Gly