Canonical Allele Identifier: CA127512

Gene: APOE

Linked Data

• ClinVar Variation Id: 17864
• ClinVar RCV Id: RCV000019448 ; RCV000292119 ; RCV000826089 ; RCV000845581 ; RCV000991302 ; RCV001262791 ; RCV001195807
• dbSNP Id: rs429358
• ExAC: 19:45411941 T / C
• gnomAD v2: 19-45411941-T-C
• gnomAD v3: 19-44908684-T-C
• gnomAD v4: 19-44908684-T-C
• MyVariant Identifiers: chr19:g.45411941T>C (hg19) ; chr19:g.44908684T>C (hg38)
• PubMed: PMID:2987927 ; PMID:3922972 ; PMID:7263700 ; PMID:8346443 ; PMID:8618665 ; PMID:8644717 ; PMID:9932938 ; PMID:10213549 ; PMID:11835377 ; PMID:11940689 ; PMID:11940706 ; PMID:14741101 ; PMID:15048896 ; PMID:15172743 ; PMID:15184602 ; PMID:15326261 ; PMID:15557508 ; PMID:15668424 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908684T>C , CM000681.2:g.44908684T>C	GRCh38
NC_000019.9:g.45411941T>C , CM000681.1:g.45411941T>C	GRCh37
NC_000019.8:g.50103781T>C	NCBI36
NG_007084.2:g.7903T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.388T>C MANE Select	ENSP00000252486.3:p.Cys130Arg
ENST00000252486.8:c.388T>C	ENSP00000252486.3:p.Cys130Arg
ENST00000425718.1:c.388T>C	ENSP00000410423.1:p.Cys130Arg
ENST00000434152.5:c.466T>C	ENSP00000413653.2:p.Cys156Arg
ENST00000446996.5:c.388T>C	ENSP00000413135.1:p.Cys130Arg
NM_000041.3:c.388T>C	NP_000032.1:p.Cys130Arg
NM_001302688.1:c.466T>C	NP_001289617.1:p.Cys156Arg
NM_001302689.1:c.388T>C	NP_001289618.1:p.Cys130Arg
NM_001302690.1:c.388T>C	NP_001289619.1:p.Cys130Arg
NM_001302691.1:c.388T>C	NP_001289620.1:p.Cys130Arg
NM_000041.4:c.388T>C MANE Select	NP_000032.1:p.Cys130Arg
NM_001302688.2:c.466T>C	NP_001289617.1:p.Cys156Arg
NM_001302689.2:c.388T>C	NP_001289618.1:p.Cys130Arg
NM_001302691.2:c.388T>C	NP_001289620.1:p.Cys130Arg
NM_001302690.2:c.388T>C	NP_001289619.1:p.Cys130Arg