Canonical Allele Identifier: CA507947637
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 1739764
ClinVar RCV Id: RCV002332101
dbSNP Id: rs1489359246

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908728C>T , CM000681.2:g.44908728C>T GRCh38
NC_000019.9:g.45411985C>T , CM000681.1:g.45411985C>T GRCh37
NC_000019.8:g.50103825C>T NCBI36
NG_007084.2:g.7947C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.432C>T MANE Select ENSP00000252486.3:p.Leu144=
ENST00000252486.8:c.432C>T ENSP00000252486.3:p.Leu144=
ENST00000425718.1:c.432C>T ENSP00000410423.1:p.Leu144=
ENST00000434152.5:c.510C>T ENSP00000413653.2:p.Leu170=
ENST00000446996.5:c.432C>T ENSP00000413135.1:p.Leu144=
NM_000041.3:c.432C>T NP_000032.1:p.Leu144=
NM_001302688.1:c.510C>T NP_001289617.1:p.Leu170=
NM_001302689.1:c.432C>T NP_001289618.1:p.Leu144=
NM_001302690.1:c.432C>T NP_001289619.1:p.Leu144=
NM_001302691.1:c.432C>T NP_001289620.1:p.Leu144=
NM_000041.4:c.432C>T MANE Select NP_000032.1:p.Leu144=
NM_001302688.2:c.510C>T NP_001289617.1:p.Leu170=
NM_001302689.2:c.432C>T NP_001289618.1:p.Leu144=
NM_001302691.2:c.432C>T NP_001289620.1:p.Leu144=
NM_001302690.2:c.432C>T NP_001289619.1:p.Leu144=