Canonical Allele Identifier: CA9506001

Gene: APOE

Linked Data

• ClinVar Variation Id: 1786056
• ClinVar RCV Id: RCV002424368
• dbSNP Id: rs781192562
• ExAC: 19:45411183 C / T
• gnomAD v2: 19-45411183-C-T
• gnomAD v4: 19-44907926-C-T
• MyVariant Identifiers: chr19:g.45411183C>T (hg19) ; chr19:g.44907926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44907926C>T , CM000681.2:g.44907926C>T	GRCh38
NC_000019.9:g.45411183C>T , CM000681.1:g.45411183C>T	GRCh37
NC_000019.8:g.50103023C>T	NCBI36
NG_007084.2:g.7145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.210C>T MANE Select	ENSP00000252486.3:p.Leu70=
ENST00000252486.8:c.210C>T	ENSP00000252486.3:p.Leu70=
ENST00000425718.1:c.210C>T	ENSP00000410423.1:p.Leu70=
ENST00000434152.5:c.288C>T	ENSP00000413653.2:p.Leu96=
ENST00000446996.5:c.210C>T	ENSP00000413135.1:p.Leu70=
NM_000041.3:c.210C>T	NP_000032.1:p.Leu70=
NM_001302688.1:c.288C>T	NP_001289617.1:p.Leu96=
NM_001302689.1:c.210C>T	NP_001289618.1:p.Leu70=
NM_001302690.1:c.210C>T	NP_001289619.1:p.Leu70=
NM_001302691.1:c.210C>T	NP_001289620.1:p.Leu70=
NM_000041.4:c.210C>T MANE Select	NP_000032.1:p.Leu70=
NM_001302688.2:c.288C>T	NP_001289617.1:p.Leu96=
NM_001302689.2:c.210C>T	NP_001289618.1:p.Leu70=
NM_001302691.2:c.210C>T	NP_001289620.1:p.Leu70=
NM_001302690.2:c.210C>T	NP_001289619.1:p.Leu70=