Canonical Allele Identifier: CA408152239

Gene: PRNP

Linked Data

• MyVariant Identifiers: chr20:g.4680253G>C (hg19) ; chr20:g.4699607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4699607G>C , CM000682.2:g.4699607G>C	GRCh38
NC_000020.10:g.4680253G>C , CM000682.1:g.4680253G>C	GRCh37
NC_000020.9:g.4628253G>C	NCBI36
NG_009087.1:g.18457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379440.9:c.387G>C MANE Select	ENSP00000368752.4:p.Met129Ile
ENST00000424424.2:c.387G>C	ENSP00000411599.2:p.Met129Ile
ENST00000457586.2:c.387G>C	ENSP00000415284.2:p.Met129Ile
ENST00000379440.8:c.387G>C	ENSP00000368752.4:p.Met129Ile
ENST00000424424.1:c.387G>C	ENSP00000411599.1:p.Met129Ile
ENST00000430350.2:c.387G>C	ENSP00000399376.2:p.Met129Ile
ENST00000457586.1:c.387G>C	ENSP00000415284.1:p.Met129Ile
NM_000311.3:c.387G>C	NP_000302.1:p.Met129Ile
NM_001080121.1:c.387G>C	NP_001073590.1:p.Met129Ile
NM_001080122.1:c.387G>C	NP_001073591.1:p.Met129Ile
NM_001080123.1:c.387G>C	NP_001073592.1:p.Met129Ile
NM_001271561.1:c.*76G>C	NP_001258490.1:n.*76G>C
NM_183079.2:c.387G>C	NP_898902.1:p.Met129Ile
NM_000311.4:c.387G>C	NP_000302.1:p.Met129Ile
NM_001080121.2:c.387G>C	NP_001073590.1:p.Met129Ile
NM_001080122.2:c.387G>C	NP_001073591.1:p.Met129Ile
NM_001080123.2:c.387G>C	NP_001073592.1:p.Met129Ile
NM_001271561.2:c.*76G>C	NP_001258490.1:n.*76G>C
NM_183079.3:c.387G>C	NP_898902.1:p.Met129Ile
NM_000311.5:c.387G>C MANE Select	NP_000302.1:p.Met129Ile
NM_001080121.3:c.387G>C	NP_001073590.1:p.Met129Ile
NM_001080122.3:c.387G>C	NP_001073591.1:p.Met129Ile
NM_001080123.3:c.387G>C	NP_001073592.1:p.Met129Ile
NM_001271561.3:c.*76G>C	NP_001258490.1:n.*76G>C
NM_183079.4:c.387G>C	NP_898902.1:p.Met129Ile