Canonical Allele Identifier: CA041493

Gene: APOE

Linked Data

• ClinVar Variation Id: 441266
• ClinVar RCV Id: RCV000019454
• PubMed: PMID:8488843

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44908822C>T;44909057T>A] , CM000681.2:g.[44908822C>T;44909057T>A]	GRCh38
NC_000019.9:g.[45412079C>T;45412314T>A] , CM000681.1:g.[45412079C>T;45412314T>A]	GRCh37
NC_000019.8:g.[50103919C>T;50104154T>A]	NCBI36
NG_007084.2:g.[8041C>T;8276T>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.[526C>T;761T>A] MANE Select	ENSP00000252486.3:p.[Arg176Cys;Val254Glu]...
ENST00000252486.8:c.[526C>T;761T>A]	ENSP00000252486.3:p.[Arg176Cys;Val254Glu]...
NM_000041.3:c.[526C>T;761T>A]	NP_000032.1:p.[Arg176Cys;Val254Glu]
NM_001302688.1:c.[604C>T;839T>A]	NP_001289617.1:p.[Arg202Cys;Val280Glu]
NM_001302689.1:c.[526C>T;761T>A]	NP_001289618.1:p.[Arg176Cys;Val254Glu]
NM_001302690.1:c.[526C>T;761T>A]	NP_001289619.1:p.[Arg176Cys;Val254Glu]
NM_001302691.1:c.[526C>T;761T>A]	NP_001289620.1:p.[Arg176Cys;Val254Glu]
NM_000041.4:c.[526C>T;761T>A] MANE Select	NP_000032.1:p.[Arg176Cys;Val254Glu]
NM_001302688.2:c.[604C>T;839T>A]	NP_001289617.1:p.[Arg202Cys;Val280Glu]
NM_001302689.2:c.[526C>T;761T>A]	NP_001289618.1:p.[Arg176Cys;Val254Glu]
NM_001302691.2:c.[526C>T;761T>A]	NP_001289620.1:p.[Arg176Cys;Val254Glu]
NM_001302690.2:c.[526C>T;761T>A]	NP_001289619.1:p.[Arg176Cys;Val254Glu]