Canonical Allele Identifier: CA9506043

Gene: APOE

Linked Data

• ClinVar Variation Id: 1315880
• ClinVar RCV Id: RCV001757327 ; RCV003355539
• dbSNP Id: rs745552623
• ExAC: 19:45411888 C / A
• gnomAD v2: 19-45411888-C-A
• gnomAD v3: 19-44908631-C-A
• gnomAD v4: 19-44908631-C-A
• MyVariant Identifiers: chr19:g.45411888C>A (hg19) ; chr19:g.44908631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908631C>A , CM000681.2:g.44908631C>A	GRCh38
NC_000019.9:g.45411888C>A , CM000681.1:g.45411888C>A	GRCh37
NC_000019.8:g.50103728C>A	NCBI36
NG_007084.2:g.7850C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.335C>A MANE Select	ENSP00000252486.3:p.Ser112Tyr
ENST00000252486.8:c.335C>A	ENSP00000252486.3:p.Ser112Tyr
ENST00000425718.1:c.335C>A	ENSP00000410423.1:p.Ser112Tyr
ENST00000434152.5:c.413C>A	ENSP00000413653.2:p.Ser138Tyr
ENST00000446996.5:c.335C>A	ENSP00000413135.1:p.Ser112Tyr
NM_000041.3:c.335C>A	NP_000032.1:p.Ser112Tyr
NM_001302688.1:c.413C>A	NP_001289617.1:p.Ser138Tyr
NM_001302689.1:c.335C>A	NP_001289618.1:p.Ser112Tyr
NM_001302690.1:c.335C>A	NP_001289619.1:p.Ser112Tyr
NM_001302691.1:c.335C>A	NP_001289620.1:p.Ser112Tyr
NM_000041.4:c.335C>A MANE Select	NP_000032.1:p.Ser112Tyr
NM_001302688.2:c.413C>A	NP_001289617.1:p.Ser138Tyr
NM_001302689.2:c.335C>A	NP_001289618.1:p.Ser112Tyr
NM_001302691.2:c.335C>A	NP_001289620.1:p.Ser112Tyr
NM_001302690.2:c.335C>A	NP_001289619.1:p.Ser112Tyr