Canonical Allele Identifier: CA042073
Gene: APOE HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44908601C>G
GRCh37 chr19:g.45411858C>G
Revel Score:
ENST00000252486 (MANE Select) 0.517
ENST00000446996 0.517
ENST00000434152 0.517
ENST00000425718 0.517
gnomAD v2:
19:45411858 C / G
gnomAD v3:
19:44908601 C / G
gnomAD v4:
chr19-44908601-C-G
Joint Max Group AF 0.00002235 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002118 (NFE)
dbSNP:
11083750
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908601C>G , CM000681.2:g.44908601C>G GRCh38
NC_000019.9:g.45411858C>G , CM000681.1:g.45411858C>G GRCh37
NC_000019.8:g.50103698C>G NCBI36
NG_007084.2:g.7820C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.305C>G MANE Select ENSP00000252486.3:p.Pro102Arg
ENST00000252486.8:c.305C>G ENSP00000252486.3:p.Pro102Arg
ENST00000425718.1:c.305C>G ENSP00000410423.1:p.Pro102Arg
ENST00000434152.5:c.383C>G ENSP00000413653.2:p.Pro128Arg
ENST00000446996.5:c.305C>G ENSP00000413135.1:p.Pro102Arg
NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg
NM_001302688.1:c.383C>G NP_001289617.1:p.Pro128Arg
NM_001302689.1:c.305C>G NP_001289618.1:p.Pro102Arg
NM_001302690.1:c.305C>G NP_001289619.1:p.Pro102Arg
NM_001302691.1:c.305C>G NP_001289620.1:p.Pro102Arg
NM_000041.4:c.305C>G MANE Select NP_000032.1:p.Pro102Arg
NM_001302688.2:c.383C>G NP_001289617.1:p.Pro128Arg
NM_001302689.2:c.305C>G NP_001289618.1:p.Pro102Arg
NM_001302691.2:c.305C>G NP_001289620.1:p.Pro102Arg
NM_001302690.2:c.305C>G NP_001289619.1:p.Pro102Arg
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