Canonical Allele Identifier: CA507947654

Gene: APOE

Linked Data

• dbSNP Id: rs1424265524
• gnomAD v2: 19-45412393-G-A
• MyVariant Identifiers: chr19:g.45412393G>A (hg19) ; chr19:g.44909136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909136G>A , CM000681.2:g.44909136G>A	GRCh38
NC_000019.9:g.45412393G>A , CM000681.1:g.45412393G>A	GRCh37
NC_000019.8:g.50104233G>A	NCBI36
NG_007084.2:g.8355G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.840G>A MANE Select	ENSP00000252486.3:p.Lys280=
ENST00000252486.8:c.840G>A	ENSP00000252486.3:p.Lys280=
NM_000041.3:c.840G>A	NP_000032.1:p.Lys280=
NM_001302688.1:c.918G>A	NP_001289617.1:p.Lys306=
NM_001302689.1:c.840G>A	NP_001289618.1:p.Lys280=
NM_001302690.1:c.840G>A	NP_001289619.1:p.Lys280=
NM_001302691.1:c.840G>A	NP_001289620.1:p.Lys280=
NM_000041.4:c.840G>A MANE Select	NP_000032.1:p.Lys280=
NM_001302688.2:c.918G>A	NP_001289617.1:p.Lys306=
NM_001302689.2:c.840G>A	NP_001289618.1:p.Lys280=
NM_001302691.2:c.840G>A	NP_001289620.1:p.Lys280=
NM_001302690.2:c.840G>A	NP_001289619.1:p.Lys280=