Canonical Allele Identifier: CA034774

Gene: PRNP

Linked Data

• PubMed: PMID:1353341 ; PMID:1353342 ; PMID:1469441 ; PMID:1671440 ; PMID:1671983 ; PMID:1684756 ; PMID:7709737 ; PMID:9751723 ; PMID:10581230 ; PMID:12205650 ; PMID:16227536 ; PMID:19038218

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.[4699605A>G;4699752G>A] , CM000682.2:g.[4699605A>G;4699752G>A]	GRCh38
NC_000020.10:g.[4680251A>G;4680398G>A] , CM000682.1:g.[4680251A>G;4680398G>A]	GRCh37
NC_000020.9:g.[4628251A>G;4628398G>A]	NCBI36
NG_009087.1:g.[18455A>G;18602G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.[385A>G;532G>A] MANE Select	ENSP00000368752.4:p.[Met129Val;Asp178Asn]
ENST00000424424.2:c.[385A>G;532G>A]	ENSP00000411599.2:p.[Met129Val;Asp178Asn]
ENST00000457586.2:c.[385A>G;532G>A]	ENSP00000415284.2:p.[Met129Val;Asp178Asn]
ENST00000379440.8:c.[385A>G;532G>A]	ENSP00000368752.4:p.[Met129Val;Asp178Asn]
ENST00000424424.1:c.[385A>G;532G>A]	ENSP00000411599.1:p.[Met129Val;Asp178Asn]
ENST00000430350.2:c.[385A>G;532G>A]	ENSP00000399376.2:p.[Met129Val;Asp178Asn]
ENST00000457586.1:c.[385A>G;532G>A]	ENSP00000415284.1:p.[Met129Val;Asp178Asn]
NM_000311.3:c.[385A>G;532G>A]	NP_000302.1:p.[Met129Val;Asp178Asn]
NM_001080121.1:c.[385A>G;532G>A]	NP_001073590.1:p.[Met129Val;Asp178Asn]
NM_001080122.1:c.[385A>G;532G>A]	NP_001073591.1:p.[Met129Val;Asp178Asn]
NM_001080123.1:c.[385A>G;532G>A]	NP_001073592.1:p.[Met129Val;Asp178Asn]
NM_001271561.1:c.[*74A>G;*221G>A]	NP_001258490.1:n.[*74A>G;*221G>A]
NM_183079.2:c.[385A>G;532G>A]	NP_898902.1:p.[Met129Val;Asp178Asn]
NM_000311.4:c.[385A>G;532G>A]	NP_000302.1:p.[Met129Val;Asp178Asn]
NM_001080121.2:c.[385A>G;532G>A]	NP_001073590.1:p.[Met129Val;Asp178Asn]
NM_001080122.2:c.[385A>G;532G>A]	NP_001073591.1:p.[Met129Val;Asp178Asn]
NM_001080123.2:c.[385A>G;532G>A]	NP_001073592.1:p.[Met129Val;Asp178Asn]
NM_001271561.2:c.[*74A>G;*221G>A]	NP_001258490.1:n.[*74A>G;*221G>A]
NM_183079.3:c.[385A>G;532G>A]	NP_898902.1:p.[Met129Val;Asp178Asn]
NM_000311.5:c.[385A>G;532G>A] MANE Select	NP_000302.1:p.[Met129Val;Asp178Asn]
NM_001080121.3:c.[385A>G;532G>A]	NP_001073590.1:p.[Met129Val;Asp178Asn]
NM_001080122.3:c.[385A>G;532G>A]	NP_001073591.1:p.[Met129Val;Asp178Asn]
NM_001080123.3:c.[385A>G;532G>A]	NP_001073592.1:p.[Met129Val;Asp178Asn]
NM_001271561.3:c.[*74A>G;*221G>A]	NP_001258490.1:n.[*74A>G;*221G>A]
NM_183079.4:c.[385A>G;532G>A]	NP_898902.1:p.[Met129Val;Asp178Asn]