Canonical Allele Identifier: CA9752057

Gene: PRNP

Linked Data

• ClinVar Variation Id: 753337
• ClinVar RCV Id: RCV002542239
• dbSNP Id: rs757409258
• ExAC: 20:4680232 G / T
• gnomAD v2: 20-4680232-G-T
• gnomAD v3: 20-4699586-G-T
• gnomAD v4: 20-4699586-G-T
• MyVariant Identifiers: chr20:g.4680232G>T (hg19) ; chr20:g.4699586G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699586G>T , CM000682.2:g.4699586G>T	GRCh38
NC_000020.10:g.4680232G>T , CM000682.1:g.4680232G>T	GRCh37
NC_000020.9:g.4628232G>T	NCBI36
NG_009087.1:g.18436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.366G>T MANE Select	ENSP00000368752.4:p.Val122=
ENST00000424424.2:c.366G>T	ENSP00000411599.2:p.Val122=
ENST00000457586.2:c.366G>T	ENSP00000415284.2:p.Val122=
ENST00000379440.8:c.366G>T	ENSP00000368752.4:p.Val122=
ENST00000424424.1:c.366G>T	ENSP00000411599.1:p.Val122=
ENST00000430350.2:c.366G>T	ENSP00000399376.2:p.Val122=
ENST00000457586.1:c.366G>T	ENSP00000415284.1:p.Val122=
NM_000311.3:c.366G>T	NP_000302.1:p.Val122=
NM_001080121.1:c.366G>T	NP_001073590.1:p.Val122=
NM_001080122.1:c.366G>T	NP_001073591.1:p.Val122=
NM_001080123.1:c.366G>T	NP_001073592.1:p.Val122=
NM_001271561.1:c.*55G>T	NP_001258490.1:n.*55G>T
NM_183079.2:c.366G>T	NP_898902.1:p.Val122=
NM_000311.4:c.366G>T	NP_000302.1:p.Val122=
NM_001080121.2:c.366G>T	NP_001073590.1:p.Val122=
NM_001080122.2:c.366G>T	NP_001073591.1:p.Val122=
NM_001080123.2:c.366G>T	NP_001073592.1:p.Val122=
NM_001271561.2:c.*55G>T	NP_001258490.1:n.*55G>T
NM_183079.3:c.366G>T	NP_898902.1:p.Val122=
NM_000311.5:c.366G>T MANE Select	NP_000302.1:p.Val122=
NM_001080121.3:c.366G>T	NP_001073590.1:p.Val122=
NM_001080122.3:c.366G>T	NP_001073591.1:p.Val122=
NM_001080123.3:c.366G>T	NP_001073592.1:p.Val122=
NM_001271561.3:c.*55G>T	NP_001258490.1:n.*55G>T
NM_183079.4:c.366G>T	NP_898902.1:p.Val122=