Canonical Allele Identifier: CA041334

Gene: APOE

Linked Data

• PubMed: PMID:1361196 ; PMID:1674745

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44907807G>A;44908783C>T] , CM000681.2:g.[44907807G>A;44908783C>T]	GRCh38
NC_000019.9:g.[45411064G>A;45412040C>T] , CM000681.1:g.[45411064G>A;45412040C>T]	GRCh37
NC_000019.8:g.[50102904G>A;50103880C>T]	NCBI36
NG_007084.2:g.[7026G>A;8002C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.[91G>A;487C>T] MANE Select	ENSP00000252486.3:p.[Glu31Lys;Arg163Cys]
ENST00000252486.8:c.[91G>A;487C>T]	ENSP00000252486.3:p.[Glu31Lys;Arg163Cys]
ENST00000425718.1:c.[91G>A;487C>T]	ENSP00000410423.1:p.[Glu31Lys;Arg163Cys]
ENST00000434152.5:c.[169G>A;565C>T]	ENSP00000413653.2:p.[Glu57Lys;Arg189Cys]
ENST00000446996.5:c.[91G>A;487C>T]	ENSP00000413135.1:p.[Glu31Lys;Arg163Cys]
NM_000041.3:c.[91G>A;487C>T]	NP_000032.1:p.[Glu31Lys;Arg163Cys]
NM_001302688.1:c.[169G>A;565C>T]	NP_001289617.1:p.[Glu57Lys;Arg189Cys]
NM_001302689.1:c.[91G>A;487C>T]	NP_001289618.1:p.[Glu31Lys;Arg163Cys]
NM_001302690.1:c.[91G>A;487C>T]	NP_001289619.1:p.[Glu31Lys;Arg163Cys]
NM_001302691.1:c.[91G>A;487C>T]	NP_001289620.1:p.[Glu31Lys;Arg163Cys]
NM_000041.4:c.[91G>A;487C>T] MANE Select	NP_000032.1:p.[Glu31Lys;Arg163Cys]
NM_001302688.2:c.[169G>A;565C>T]	NP_001289617.1:p.[Glu57Lys;Arg189Cys]
NM_001302689.2:c.[91G>A;487C>T]	NP_001289618.1:p.[Glu31Lys;Arg163Cys]
NM_001302691.2:c.[91G>A;487C>T]	NP_001289620.1:p.[Glu31Lys;Arg163Cys]
NM_001302690.2:c.[91G>A;487C>T]	NP_001289619.1:p.[Glu31Lys;Arg163Cys]