Canonical Allele Identifier: CA127512
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 17864
dbSNP Id: rs429358

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908684T>C , CM000681.2:g.44908684T>C GRCh38
NC_000019.9:g.45411941T>C , CM000681.1:g.45411941T>C GRCh37
NC_000019.8:g.50103781T>C NCBI36
NG_007084.2:g.7903T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.388T>C MANE Select ENSP00000252486.3:p.Cys130Arg
ENST00000252486.8:c.388T>C ENSP00000252486.3:p.Cys130Arg
ENST00000425718.1:c.388T>C ENSP00000410423.1:p.Cys130Arg
ENST00000434152.5:c.466T>C ENSP00000413653.2:p.Cys156Arg
ENST00000446996.5:c.388T>C ENSP00000413135.1:p.Cys130Arg
NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg
NM_001302688.1:c.466T>C NP_001289617.1:p.Cys156Arg
NM_001302689.1:c.388T>C NP_001289618.1:p.Cys130Arg
NM_001302690.1:c.388T>C NP_001289619.1:p.Cys130Arg
NM_001302691.1:c.388T>C NP_001289620.1:p.Cys130Arg
NM_000041.4:c.388T>C MANE Select NP_000032.1:p.Cys130Arg
NM_001302688.2:c.466T>C NP_001289617.1:p.Cys156Arg
NM_001302689.2:c.388T>C NP_001289618.1:p.Cys130Arg
NM_001302691.2:c.388T>C NP_001289620.1:p.Cys130Arg
NM_001302690.2:c.388T>C NP_001289619.1:p.Cys130Arg