Canonical Allele Identifier: CA507947824

Gene: APOE

Linked Data

• dbSNP Id: rs1312923493
• gnomAD v2: 19-45412060-T-C
• gnomAD v3: 19-44908803-T-C
• gnomAD v4: 19-44908803-T-C
• MyVariant Identifiers: chr19:g.45412060T>C (hg19) ; chr19:g.44908803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908803T>C , CM000681.2:g.44908803T>C	GRCh38
NC_000019.9:g.45412060T>C , CM000681.1:g.45412060T>C	GRCh37
NC_000019.8:g.50103900T>C	NCBI36
NG_007084.2:g.8022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.507T>C MANE Select	ENSP00000252486.3:p.Asp169=
ENST00000252486.8:c.507T>C	ENSP00000252486.3:p.Asp169=
ENST00000425718.1:c.507T>C	ENSP00000410423.1:p.Asp169=
ENST00000434152.5:c.585T>C	ENSP00000413653.2:p.Asp195=
ENST00000446996.5:c.507T>C	ENSP00000413135.1:p.Asp169=
NM_000041.3:c.507T>C	NP_000032.1:p.Asp169=
NM_001302688.1:c.585T>C	NP_001289617.1:p.Asp195=
NM_001302689.1:c.507T>C	NP_001289618.1:p.Asp169=
NM_001302690.1:c.507T>C	NP_001289619.1:p.Asp169=
NM_001302691.1:c.507T>C	NP_001289620.1:p.Asp169=
NM_000041.4:c.507T>C MANE Select	NP_000032.1:p.Asp169=
NM_001302688.2:c.585T>C	NP_001289617.1:p.Asp195=
NM_001302689.2:c.507T>C	NP_001289618.1:p.Asp169=
NM_001302691.2:c.507T>C	NP_001289620.1:p.Asp169=
NM_001302690.2:c.507T>C	NP_001289619.1:p.Asp169=