Canonical Allele Identifier: CA127524
Gene: APOE HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44908784G>C
GRCh37 chr19:g.45412041G>C
Revel Score:
ENST00000252486 (MANE Select) 0.697
ENST00000446996 0.697
ENST00000434152 0.697
ENST00000425718 0.697
ClinVar RCV:
RCV000019466
ClinVar Variation:
17879
dbSNP:
121918397
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908784G>C , CM000681.2:g.44908784G>C GRCh38
NC_000019.9:g.45412041G>C , CM000681.1:g.45412041G>C GRCh37
NC_000019.8:g.50103881G>C NCBI36
NG_007084.2:g.8003G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.488G>C MANE Select ENSP00000252486.3:p.Arg163Pro
ENST00000252486.8:c.488G>C ENSP00000252486.3:p.Arg163Pro
ENST00000425718.1:c.488G>C ENSP00000410423.1:p.Arg163Pro
ENST00000434152.5:c.566G>C ENSP00000413653.2:p.Arg189Pro
ENST00000446996.5:c.488G>C ENSP00000413135.1:p.Arg163Pro
NM_000041.3:c.488G>C NP_000032.1:p.Arg163Pro
NM_001302688.1:c.566G>C NP_001289617.1:p.Arg189Pro
NM_001302689.1:c.488G>C NP_001289618.1:p.Arg163Pro
NM_001302690.1:c.488G>C NP_001289619.1:p.Arg163Pro
NM_001302691.1:c.488G>C NP_001289620.1:p.Arg163Pro
NM_000041.4:c.488G>C MANE Select NP_000032.1:p.Arg163Pro
NM_001302688.2:c.566G>C NP_001289617.1:p.Arg189Pro
NM_001302689.2:c.488G>C NP_001289618.1:p.Arg163Pro
NM_001302691.2:c.488G>C NP_001289620.1:p.Arg163Pro
NM_001302690.2:c.488G>C NP_001289619.1:p.Arg163Pro
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