Canonical Allele Identifier: CA041979

Gene: APOE

Linked Data

• ClinVar Variation Id: 441268
• ClinVar RCV Id: RCV000019456

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44907853T>C;44908684T>C] , CM000681.2:g.[44907853T>C;44908684T>C]	GRCh38
NC_000019.9:g.[45411110T>C;45411941T>C] , CM000681.1:g.[45411110T>C;45411941T>C]	GRCh37
NC_000019.8:g.[50102950T>C;50103781T>C]	NCBI36
NG_007084.2:g.[7072T>C;7903T>C]

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.[137T>C;388T>C] MANE Select	ENSP00000252486.3:p.[Leu46Pro;Cys130Arg]
ENST00000252486.8:c.[137T>C;388T>C]	ENSP00000252486.3:p.[Leu46Pro;Cys130Arg]
ENST00000425718.1:c.[137T>C;388T>C]	ENSP00000410423.1:p.[Leu46Pro;Cys130Arg]
ENST00000434152.5:c.[215T>C;466T>C]	ENSP00000413653.2:p.[Leu72Pro;Cys156Arg]
ENST00000446996.5:c.[137T>C;388T>C]	ENSP00000413135.1:p.[Leu46Pro;Cys130Arg]
NM_000041.3:c.[137T>C;388T>C]	NP_000032.1:p.[Leu46Pro;Cys130Arg]
NM_001302688.1:c.[215T>C;466T>C]	NP_001289617.1:p.[Leu72Pro;Cys156Arg]
NM_001302689.1:c.[137T>C;388T>C]	NP_001289618.1:p.[Leu46Pro;Cys130Arg]
NM_001302690.1:c.[137T>C;388T>C]	NP_001289619.1:p.[Leu46Pro;Cys130Arg]
NM_001302691.1:c.[137T>C;388T>C]	NP_001289620.1:p.[Leu46Pro;Cys130Arg]
NM_000041.4:c.[137T>C;388T>C] MANE Select	NP_000032.1:p.[Leu46Pro;Cys130Arg]
NM_001302688.2:c.[215T>C;466T>C]	NP_001289617.1:p.[Leu72Pro;Cys156Arg]
NM_001302689.2:c.[137T>C;388T>C]	NP_001289618.1:p.[Leu46Pro;Cys130Arg]
NM_001302691.2:c.[137T>C;388T>C]	NP_001289620.1:p.[Leu46Pro;Cys130Arg]
NM_001302690.2:c.[137T>C;388T>C]	NP_001289619.1:p.[Leu46Pro;Cys130Arg]