Canonical Allele Identifier: CA123088
Gene: PRNP HGNC NCBI

Linked Data

ClinVar Variation Id: 13397
dbSNP Id: rs1799990

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4699605A>G , CM000682.2:g.4699605A>G GRCh38
NC_000020.10:g.4680251A>G , CM000682.1:g.4680251A>G GRCh37
NC_000020.9:g.4628251A>G NCBI36
NG_009087.1:g.18455A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379440.9:c.385A>G MANE Select ENSP00000368752.4:p.Met129Val
ENST00000424424.2:c.385A>G ENSP00000411599.2:p.Met129Val
ENST00000457586.2:c.385A>G ENSP00000415284.2:p.Met129Val
ENST00000379440.8:c.385A>G ENSP00000368752.4:p.Met129Val
ENST00000424424.1:c.385A>G ENSP00000411599.1:p.Met129Val
ENST00000430350.2:c.385A>G ENSP00000399376.2:p.Met129Val
ENST00000457586.1:c.385A>G ENSP00000415284.1:p.Met129Val
NM_000311.3:c.385A>G NP_000302.1:p.Met129Val
NM_001080121.1:c.385A>G NP_001073590.1:p.Met129Val
NM_001080122.1:c.385A>G NP_001073591.1:p.Met129Val
NM_001080123.1:c.385A>G NP_001073592.1:p.Met129Val
NM_001271561.1:c.*74A>G NP_001258490.1:p.=
NM_183079.2:c.385A>G NP_898902.1:p.Met129Val
NM_000311.4:c.385A>G NP_000302.1:p.Met129Val
NM_001080121.2:c.385A>G NP_001073590.1:p.Met129Val
NM_001080122.2:c.385A>G NP_001073591.1:p.Met129Val
NM_001080123.2:c.385A>G NP_001073592.1:p.Met129Val
NM_001271561.2:c.*74A>G NP_001258490.1:p.=
NM_183079.3:c.385A>G NP_898902.1:p.Met129Val
NM_000311.5:c.385A>G MANE Select NP_000302.1:p.Met129Val
NM_001080121.3:c.385A>G NP_001073590.1:p.Met129Val
NM_001080122.3:c.385A>G NP_001073591.1:p.Met129Val
NM_001080123.3:c.385A>G NP_001073592.1:p.Met129Val
NM_001271561.3:c.*74A>G NP_001258490.1:p.=
NM_183079.4:c.385A>G NP_898902.1:p.Met129Val