Canonical Allele Identifier: CA041096

Gene: APOE

Linked Data

• ClinVar Variation Id: 441263
• ClinVar RCV Id: RCV000019435
• PubMed: PMID:2470732 ; PMID:2738044 ; PMID:6480826 ; PMID:7586659

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44909080G>A;44909083G>A] , CM000681.2:g.[44909080G>A;44909083G>A]	GRCh38
NC_000019.9:g.[45412337G>A;45412340G>A] , CM000681.1:g.[45412337G>A;45412340G>A]	GRCh37
NC_000019.8:g.[50104177G>A;50104180G>A]	NCBI36
NG_007084.2:g.[8299G>A;8302G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.[784G>A;787G>A] MANE Select	ENSP00000252486.3:p.[Glu262Lys;Glu263Lys]...
ENST00000252486.8:c.[784G>A;787G>A]	ENSP00000252486.3:p.[Glu262Lys;Glu263Lys]...
NM_000041.3:c.[784G>A;787G>A]	NP_000032.1:p.[Glu262Lys;Glu263Lys]
NM_001302688.1:c.[862G>A;865G>A]	NP_001289617.1:p.[Glu288Lys;Glu289Lys]
NM_001302689.1:c.[784G>A;787G>A]	NP_001289618.1:p.[Glu262Lys;Glu263Lys]
NM_001302690.1:c.[784G>A;787G>A]	NP_001289619.1:p.[Glu262Lys;Glu263Lys]
NM_001302691.1:c.[784G>A;787G>A]	NP_001289620.1:p.[Glu262Lys;Glu263Lys]
NM_000041.4:c.[784G>A;787G>A] MANE Select	NP_000032.1:p.[Glu262Lys;Glu263Lys]
NM_001302688.2:c.[862G>A;865G>A]	NP_001289617.1:p.[Glu288Lys;Glu289Lys]
NM_001302689.2:c.[784G>A;787G>A]	NP_001289618.1:p.[Glu262Lys;Glu263Lys]
NM_001302691.2:c.[784G>A;787G>A]	NP_001289620.1:p.[Glu262Lys;Glu263Lys]
NM_001302690.2:c.[784G>A;787G>A]	NP_001289619.1:p.[Glu262Lys;Glu263Lys]