Canonical Allele Identifier: CA041740

Gene: APOE

Linked Data

• PubMed: PMID:8488843

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44908684T>C;44909101C>G] , CM000681.2:g.[44908684T>C;44909101C>G]	GRCh38
NC_000019.9:g.[45411941T>C;45412358C>G] , CM000681.1:g.[45411941T>C;45412358C>G]	GRCh37
NC_000019.8:g.[50103781T>C;50104198C>G]	NCBI36
NG_007084.2:g.[7903T>C;8320C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.[388T>C;805C>G] MANE Select	ENSP00000252486.3:p.[Cys130Arg;Arg269Gly]
ENST00000252486.8:c.[388T>C;805C>G]	ENSP00000252486.3:p.[Cys130Arg;Arg269Gly]
NM_000041.3:c.[388T>C;805C>G]	NP_000032.1:p.[Cys130Arg;Arg269Gly]
NM_001302688.1:c.[466T>C;883C>G]	NP_001289617.1:p.[Cys156Arg;Arg295Gly]
NM_001302689.1:c.[388T>C;805C>G]	NP_001289618.1:p.[Cys130Arg;Arg269Gly]
NM_001302690.1:c.[388T>C;805C>G]	NP_001289619.1:p.[Cys130Arg;Arg269Gly]
NM_001302691.1:c.[388T>C;805C>G]	NP_001289620.1:p.[Cys130Arg;Arg269Gly]
NM_000041.4:c.[388T>C;805C>G] MANE Select	NP_000032.1:p.[Cys130Arg;Arg269Gly]
NM_001302688.2:c.[466T>C;883C>G]	NP_001289617.1:p.[Cys156Arg;Arg295Gly]
NM_001302689.2:c.[388T>C;805C>G]	NP_001289618.1:p.[Cys130Arg;Arg269Gly]
NM_001302691.2:c.[388T>C;805C>G]	NP_001289620.1:p.[Cys130Arg;Arg269Gly]
NM_001302690.2:c.[388T>C;805C>G]	NP_001289619.1:p.[Cys130Arg;Arg269Gly]