Canonical Allele Identifier: CA406303384
Gene: APOE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44907859T>C , CM000681.2:g.44907859T>C GRCh38
NC_000019.9:g.45411116T>C , CM000681.1:g.45411116T>C GRCh37
NC_000019.8:g.50102956T>C NCBI36
NG_007084.2:g.7078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.143T>C MANE Select ENSP00000252486.3:p.Leu48Pro
ENST00000252486.8:c.143T>C ENSP00000252486.3:p.Leu48Pro
ENST00000425718.1:c.143T>C ENSP00000410423.1:p.Leu48Pro
ENST00000434152.5:c.221T>C ENSP00000413653.2:p.Leu74Pro
ENST00000446996.5:c.143T>C ENSP00000413135.1:p.Leu48Pro
NM_000041.3:c.143T>C NP_000032.1:p.Leu48Pro
NM_001302688.1:c.221T>C NP_001289617.1:p.Leu74Pro
NM_001302689.1:c.143T>C NP_001289618.1:p.Leu48Pro
NM_001302690.1:c.143T>C NP_001289619.1:p.Leu48Pro
NM_001302691.1:c.143T>C NP_001289620.1:p.Leu48Pro
NM_000041.4:c.143T>C MANE Select NP_000032.1:p.Leu48Pro
NM_001302688.2:c.221T>C NP_001289617.1:p.Leu74Pro
NM_001302689.2:c.143T>C NP_001289618.1:p.Leu48Pro
NM_001302691.2:c.143T>C NP_001289620.1:p.Leu48Pro
NM_001302690.2:c.143T>C NP_001289619.1:p.Leu48Pro