Canonical Allele Identifier: CA041311

Gene: APOE

Linked Data

• ClinVar Variation Id: 441262
• ClinVar RCV Id: RCV000019439
• PubMed: PMID:6323533

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44908730G>A;44908822C>T] , CM000681.2:g.[44908730G>A;44908822C>T]	GRCh38
NC_000019.9:g.[45411987G>A;45412079C>T] , CM000681.1:g.[45411987G>A;45412079C>T]	GRCh37
NC_000019.8:g.[50103827G>A;50103919C>T]	NCBI36
NG_007084.2:g.[7949G>A;8041C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.[434G>A;526C>T] MANE Select	ENSP00000252486.3:p.[Gly145Asp;Arg176Cys]...
ENST00000252486.8:c.[434G>A;526C>T]	ENSP00000252486.3:p.[Gly145Asp;Arg176Cys]...
ENST00000425718.1:c.[434G>A;526C>T]	ENSP00000410423.1:p.[Gly145Asp;Arg176Cys]...
ENST00000434152.5:c.[512G>A;604C>T]	ENSP00000413653.2:p.[Gly171Asp;Arg202Cys]...
ENST00000446996.5:c.[434G>A;526C>T]	ENSP00000413135.1:p.[Gly145Asp;Arg176Cys]...
NM_000041.3:c.[434G>A;526C>T]	NP_000032.1:p.[Gly145Asp;Arg176Cys]
NM_001302688.1:c.[512G>A;604C>T]	NP_001289617.1:p.[Gly171Asp;Arg202Cys]
NM_001302689.1:c.[434G>A;526C>T]	NP_001289618.1:p.[Gly145Asp;Arg176Cys]
NM_001302690.1:c.[434G>A;526C>T]	NP_001289619.1:p.[Gly145Asp;Arg176Cys]
NM_001302691.1:c.[434G>A;526C>T]	NP_001289620.1:p.[Gly145Asp;Arg176Cys]
NM_000041.4:c.[434G>A;526C>T] MANE Select	NP_000032.1:p.[Gly145Asp;Arg176Cys]
NM_001302688.2:c.[512G>A;604C>T]	NP_001289617.1:p.[Gly171Asp;Arg202Cys]
NM_001302689.2:c.[434G>A;526C>T]	NP_001289618.1:p.[Gly145Asp;Arg176Cys]
NM_001302691.2:c.[434G>A;526C>T]	NP_001289620.1:p.[Gly145Asp;Arg176Cys]
NM_001302690.2:c.[434G>A;526C>T]	NP_001289619.1:p.[Gly145Asp;Arg176Cys]