Canonical Allele Identifier: CA256774

Gene: PRNP

Linked Data

• ClinVar Variation Id: 13395
• ClinVar RCV Id: RCV000014329 ; RCV001203438 ; RCV001269667 ; RCV001813741 ; RCV001642224
• dbSNP Id: rs74315401
• gnomAD v4: 20-4699525-C-T
• MyVariant Identifiers: chr20:g.4680171C>T (hg19) ; chr20:g.4699525C>T (hg38)
• PubMed: PMID:1672296 ; PMID:1674033 ; PMID:2180366 ; PMID:2190844 ; PMID:2564168 ; PMID:2572450 ; PMID:2783132 ; PMID:7902971 ; PMID:9653185 ; PMID:11967261 ; PMID:20301407

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699525C>T , CM000682.2:g.4699525C>T	GRCh38
NC_000020.10:g.4680171C>T , CM000682.1:g.4680171C>T	GRCh37
NC_000020.9:g.4628171C>T	NCBI36
NG_009087.1:g.18375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.305C>T MANE Select	ENSP00000368752.4:p.Pro102Leu
ENST00000424424.2:c.305C>T	ENSP00000411599.2:p.Pro102Leu
ENST00000457586.2:c.305C>T	ENSP00000415284.2:p.Pro102Leu
ENST00000379440.8:c.305C>T	ENSP00000368752.4:p.Pro102Leu
ENST00000424424.1:c.305C>T	ENSP00000411599.1:p.Pro102Leu
ENST00000430350.2:c.305C>T	ENSP00000399376.2:p.Pro102Leu
ENST00000457586.1:c.305C>T	ENSP00000415284.1:p.Pro102Leu
NM_000311.3:c.305C>T	NP_000302.1:p.Pro102Leu
NM_001080121.1:c.305C>T	NP_001073590.1:p.Pro102Leu
NM_001080122.1:c.305C>T	NP_001073591.1:p.Pro102Leu
NM_001080123.1:c.305C>T	NP_001073592.1:p.Pro102Leu
NM_001271561.1:c.216C>T	NP_001258490.1:p.Ala72=
NM_183079.2:c.305C>T	NP_898902.1:p.Pro102Leu
NM_000311.4:c.305C>T	NP_000302.1:p.Pro102Leu
NM_001080121.2:c.305C>T	NP_001073590.1:p.Pro102Leu
NM_001080122.2:c.305C>T	NP_001073591.1:p.Pro102Leu
NM_001080123.2:c.305C>T	NP_001073592.1:p.Pro102Leu
NM_001271561.2:c.216C>T	NP_001258490.1:p.Ala72=
NM_183079.3:c.305C>T	NP_898902.1:p.Pro102Leu
NM_000311.5:c.305C>T MANE Select	NP_000302.1:p.Pro102Leu
NM_001080121.3:c.305C>T	NP_001073590.1:p.Pro102Leu
NM_001080122.3:c.305C>T	NP_001073591.1:p.Pro102Leu
NM_001080123.3:c.305C>T	NP_001073592.1:p.Pro102Leu
NM_001271561.3:c.216C>T	NP_001258490.1:p.Ala72=
NM_183079.4:c.305C>T	NP_898902.1:p.Pro102Leu