Canonical Allele Identifier: CA507947857

Gene: APOE

Linked Data

• dbSNP Id: rs1466800041
• gnomAD v2: 19-45412072-G-A
• gnomAD v4: 19-44908815-G-A
• MyVariant Identifiers: chr19:g.45412072G>A (hg19) ; chr19:g.44908815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908815G>A , CM000681.2:g.44908815G>A	GRCh38
NC_000019.9:g.45412072G>A , CM000681.1:g.45412072G>A	GRCh37
NC_000019.8:g.50103912G>A	NCBI36
NG_007084.2:g.8034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.519G>A MANE Select	ENSP00000252486.3:p.Leu173=
ENST00000252486.8:c.519G>A	ENSP00000252486.3:p.Leu173=
ENST00000425718.1:c.519G>A	ENSP00000410423.1:p.Leu173=
ENST00000434152.5:c.597G>A	ENSP00000413653.2:p.Leu199=
ENST00000446996.5:c.519G>A	ENSP00000413135.1:p.Leu173=
NM_000041.3:c.519G>A	NP_000032.1:p.Leu173=
NM_001302688.1:c.597G>A	NP_001289617.1:p.Leu199=
NM_001302689.1:c.519G>A	NP_001289618.1:p.Leu173=
NM_001302690.1:c.519G>A	NP_001289619.1:p.Leu173=
NM_001302691.1:c.519G>A	NP_001289620.1:p.Leu173=
NM_000041.4:c.519G>A MANE Select	NP_000032.1:p.Leu173=
NM_001302688.2:c.597G>A	NP_001289617.1:p.Leu199=
NM_001302689.2:c.519G>A	NP_001289618.1:p.Leu173=
NM_001302691.2:c.519G>A	NP_001289620.1:p.Leu173=
NM_001302690.2:c.519G>A	NP_001289619.1:p.Leu173=