Canonical Allele Identifier: CA127513

Gene: APOE

Linked Data

• ClinVar Variation Id: 17865
• ClinVar RCV Id: RCV000019449 ; RCV002250463
• dbSNP Id: rs121918397
• gnomAD v2: 19-45412041-G-A
• gnomAD v4: 19-44908784-G-A
• MyVariant Identifiers: chr19:g.45412041G>A (hg19) ; chr19:g.44908784G>A (hg38)
• PubMed: PMID:2101409

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908784G>A , CM000681.2:g.44908784G>A	GRCh38
NC_000019.9:g.45412041G>A , CM000681.1:g.45412041G>A	GRCh37
NC_000019.8:g.50103881G>A	NCBI36
NG_007084.2:g.8003G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.488G>A MANE Select	ENSP00000252486.3:p.Arg163His
ENST00000252486.8:c.488G>A	ENSP00000252486.3:p.Arg163His
ENST00000425718.1:c.488G>A	ENSP00000410423.1:p.Arg163His
ENST00000434152.5:c.566G>A	ENSP00000413653.2:p.Arg189His
ENST00000446996.5:c.488G>A	ENSP00000413135.1:p.Arg163His
NM_000041.3:c.488G>A	NP_000032.1:p.Arg163His
NM_001302688.1:c.566G>A	NP_001289617.1:p.Arg189His
NM_001302689.1:c.488G>A	NP_001289618.1:p.Arg163His
NM_001302690.1:c.488G>A	NP_001289619.1:p.Arg163His
NM_001302691.1:c.488G>A	NP_001289620.1:p.Arg163His
NM_000041.4:c.488G>A MANE Select	NP_000032.1:p.Arg163His
NM_001302688.2:c.566G>A	NP_001289617.1:p.Arg189His
NM_001302689.2:c.488G>A	NP_001289618.1:p.Arg163His
NM_001302691.2:c.488G>A	NP_001289620.1:p.Arg163His
NM_001302690.2:c.488G>A	NP_001289619.1:p.Arg163His