Canonical Allele Identifier: CA406303777
Gene: APOE HGNC NCBI

Linked Data

dbSNP Id: rs1448845160

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908607C>T , CM000681.2:g.44908607C>T GRCh38
NC_000019.9:g.45411864C>T , CM000681.1:g.45411864C>T GRCh37
NC_000019.8:g.50103704C>T NCBI36
NG_007084.2:g.7826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.311C>T MANE Select ENSP00000252486.3:p.Ala104Val
ENST00000252486.8:c.311C>T ENSP00000252486.3:p.Ala104Val
ENST00000425718.1:c.311C>T ENSP00000410423.1:p.Ala104Val
ENST00000434152.5:c.389C>T ENSP00000413653.2:p.Ala130Val
ENST00000446996.5:c.311C>T ENSP00000413135.1:p.Ala104Val
NM_000041.3:c.311C>T NP_000032.1:p.Ala104Val
NM_001302688.1:c.389C>T NP_001289617.1:p.Ala130Val
NM_001302689.1:c.311C>T NP_001289618.1:p.Ala104Val
NM_001302690.1:c.311C>T NP_001289619.1:p.Ala104Val
NM_001302691.1:c.311C>T NP_001289620.1:p.Ala104Val
NM_000041.4:c.311C>T MANE Select NP_000032.1:p.Ala104Val
NM_001302688.2:c.389C>T NP_001289617.1:p.Ala130Val
NM_001302689.2:c.311C>T NP_001289618.1:p.Ala104Val
NM_001302691.2:c.311C>T NP_001289620.1:p.Ala104Val
NM_001302690.2:c.311C>T NP_001289619.1:p.Ala104Val