Canonical Allele Identifier: CA9506122

Gene: APOE

Linked Data

• dbSNP Id: rs749102800
• ExAC: 19:45412466 G / A
• gnomAD v2: 19-45412466-G-A
• gnomAD v3: 19-44909209-G-A
• gnomAD v4: 19-44909209-G-A
• MyVariant Identifiers: chr19:g.45412466G>A (hg19) ; chr19:g.44909209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909209G>A , CM000681.2:g.44909209G>A	GRCh38
NC_000019.9:g.45412466G>A , CM000681.1:g.45412466G>A	GRCh37
NC_000019.8:g.50104306G>A	NCBI36
NG_007084.2:g.8428G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.913G>A MANE Select	ENSP00000252486.3:p.Val305Met
ENST00000252486.8:c.913G>A	ENSP00000252486.3:p.Val305Met
NM_000041.3:c.913G>A	NP_000032.1:p.Val305Met
NM_001302688.1:c.991G>A	NP_001289617.1:p.Val331Met
NM_001302689.1:c.913G>A	NP_001289618.1:p.Val305Met
NM_001302690.1:c.913G>A	NP_001289619.1:p.Val305Met
NM_001302691.1:c.913G>A	NP_001289620.1:p.Val305Met
NM_000041.4:c.913G>A MANE Select	NP_000032.1:p.Val305Met
NM_001302688.2:c.991G>A	NP_001289617.1:p.Val331Met
NM_001302689.2:c.913G>A	NP_001289618.1:p.Val305Met
NM_001302691.2:c.913G>A	NP_001289620.1:p.Val305Met
NM_001302690.2:c.913G>A	NP_001289619.1:p.Val305Met