Canonical Allele Identifier: CA308885947
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 1315806
dbSNP Id: rs567353589

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908984G>A , CM000681.2:g.44908984G>A GRCh38
NC_000019.9:g.45412241G>A , CM000681.1:g.45412241G>A GRCh37
NC_000019.8:g.50104081G>A NCBI36
NG_007084.2:g.8203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.688G>A MANE Select ENSP00000252486.3:p.Glu230Lys
ENST00000252486.8:c.688G>A ENSP00000252486.3:p.Glu230Lys
ENST00000434152.5:c.766G>A ENSP00000413653.2:p.Glu256Lys
NM_000041.3:c.688G>A NP_000032.1:p.Glu230Lys
NM_001302688.1:c.766G>A NP_001289617.1:p.Glu256Lys
NM_001302689.1:c.688G>A NP_001289618.1:p.Glu230Lys
NM_001302690.1:c.688G>A NP_001289619.1:p.Glu230Lys
NM_001302691.1:c.688G>A NP_001289620.1:p.Glu230Lys
NM_000041.4:c.688G>A MANE Select NP_000032.1:p.Glu230Lys
NM_001302688.2:c.766G>A NP_001289617.1:p.Glu256Lys
NM_001302689.2:c.688G>A NP_001289618.1:p.Glu230Lys
NM_001302691.2:c.688G>A NP_001289620.1:p.Glu230Lys
NM_001302690.2:c.688G>A NP_001289619.1:p.Glu230Lys