Canonical Allele Identifier: CA041377

Gene: APOE

Linked Data

• ClinVar Variation Id: 441265
• ClinVar RCV Id: RCV000019452
• PubMed: PMID:8664327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44908822C>T;44909021G>A] , CM000681.2:g.[44908822C>T;44909021G>A]	GRCh38
NC_000019.9:g.[45412079C>T;45412278G>A] , CM000681.1:g.[45412079C>T;45412278G>A]	GRCh37
NC_000019.8:g.[50103919C>T;50104118G>A]	NCBI36
NG_007084.2:g.[8041C>T;8240G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.[526C>T;725G>A] MANE Select	ENSP00000252486.3:p.[Arg176Cys;Arg242Gln]...
ENST00000252486.8:c.[526C>T;725G>A]	ENSP00000252486.3:p.[Arg176Cys;Arg242Gln]...
ENST00000434152.5:c.[604C>T;803G>A]	ENSP00000413653.2:p.[Arg202Cys;Arg268Gln]...
NM_000041.3:c.[526C>T;725G>A]	NP_000032.1:p.[Arg176Cys;Arg242Gln]
NM_001302688.1:c.[604C>T;803G>A]	NP_001289617.1:p.[Arg202Cys;Arg268Gln]
NM_001302689.1:c.[526C>T;725G>A]	NP_001289618.1:p.[Arg176Cys;Arg242Gln]
NM_001302690.1:c.[526C>T;725G>A]	NP_001289619.1:p.[Arg176Cys;Arg242Gln]
NM_001302691.1:c.[526C>T;725G>A]	NP_001289620.1:p.[Arg176Cys;Arg242Gln]
NM_000041.4:c.[526C>T;725G>A] MANE Select	NP_000032.1:p.[Arg176Cys;Arg242Gln]
NM_001302688.2:c.[604C>T;803G>A]	NP_001289617.1:p.[Arg202Cys;Arg268Gln]
NM_001302689.2:c.[526C>T;725G>A]	NP_001289618.1:p.[Arg176Cys;Arg242Gln]
NM_001302691.2:c.[526C>T;725G>A]	NP_001289620.1:p.[Arg176Cys;Arg242Gln]
NM_001302690.2:c.[526C>T;725G>A]	NP_001289619.1:p.[Arg176Cys;Arg242Gln]