Canonical Allele Identifier: CA042565

Gene: APOE

Linked Data

• PubMed: PMID:6327682 ; PMID:18583979

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[44908645G>A;44908804G>C] , CM000681.2:g.[44908645G>A;44908804G>C]	GRCh38
NC_000019.9:g.[45411902G>A;45412061G>C] , CM000681.1:g.[45411902G>A;45412061G>C]	GRCh37
NC_000019.8:g.[50103742G>A;50103901G>C]	NCBI36
NG_007084.2:g.[7864G>A;8023G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.[349G>A;508G>C] MANE Select	ENSP00000252486.3:p.[Ala117Thr;Ala170Pro]
ENST00000252486.8:c.[349G>A;508G>C]	ENSP00000252486.3:p.[Ala117Thr;Ala170Pro]
ENST00000425718.1:c.[349G>A;508G>C]	ENSP00000410423.1:p.[Ala117Thr;Ala170Pro]
ENST00000434152.5:c.[427G>A;586G>C]	ENSP00000413653.2:p.[Ala143Thr;Ala196Pro]
ENST00000446996.5:c.[349G>A;508G>C]	ENSP00000413135.1:p.[Ala117Thr;Ala170Pro]
NM_000041.3:c.[349G>A;508G>C]	NP_000032.1:p.[Ala117Thr;Ala170Pro]
NM_001302688.1:c.[427G>A;586G>C]	NP_001289617.1:p.[Ala143Thr;Ala196Pro]
NM_001302689.1:c.[349G>A;508G>C]	NP_001289618.1:p.[Ala117Thr;Ala170Pro]
NM_001302690.1:c.[349G>A;508G>C]	NP_001289619.1:p.[Ala117Thr;Ala170Pro]
NM_001302691.1:c.[349G>A;508G>C]	NP_001289620.1:p.[Ala117Thr;Ala170Pro]
NM_000041.4:c.[349G>A;508G>C] MANE Select	NP_000032.1:p.[Ala117Thr;Ala170Pro]
NM_001302688.2:c.[427G>A;586G>C]	NP_001289617.1:p.[Ala143Thr;Ala196Pro]
NM_001302689.2:c.[349G>A;508G>C]	NP_001289618.1:p.[Ala117Thr;Ala170Pro]
NM_001302691.2:c.[349G>A;508G>C]	NP_001289620.1:p.[Ala117Thr;Ala170Pro]
NM_001302690.2:c.[349G>A;508G>C]	NP_001289619.1:p.[Ala117Thr;Ala170Pro]