Canonical Allele Identifier: CA406303369

Gene: APOE

Linked Data

• COSMIC: COSM998091
• MyVariant Identifiers: chr19:g.45411112G>A (hg19) ; chr19:g.44907855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44907855G>A , CM000681.2:g.44907855G>A	GRCh38
NC_000019.9:g.45411112G>A , CM000681.1:g.45411112G>A	GRCh37
NC_000019.8:g.50102952G>A	NCBI36
NG_007084.2:g.7074G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.139G>A MANE Select	ENSP00000252486.3:p.Ala47Thr
ENST00000252486.8:c.139G>A	ENSP00000252486.3:p.Ala47Thr
ENST00000425718.1:c.139G>A	ENSP00000410423.1:p.Ala47Thr
ENST00000434152.5:c.217G>A	ENSP00000413653.2:p.Ala73Thr
ENST00000446996.5:c.139G>A	ENSP00000413135.1:p.Ala47Thr
NM_000041.3:c.139G>A	NP_000032.1:p.Ala47Thr
NM_001302688.1:c.217G>A	NP_001289617.1:p.Ala73Thr
NM_001302689.1:c.139G>A	NP_001289618.1:p.Ala47Thr
NM_001302690.1:c.139G>A	NP_001289619.1:p.Ala47Thr
NM_001302691.1:c.139G>A	NP_001289620.1:p.Ala47Thr
NM_000041.4:c.139G>A MANE Select	NP_000032.1:p.Ala47Thr
NM_001302688.2:c.217G>A	NP_001289617.1:p.Ala73Thr
NM_001302689.2:c.139G>A	NP_001289618.1:p.Ala47Thr
NM_001302691.2:c.139G>A	NP_001289620.1:p.Ala47Thr
NM_001302690.2:c.139G>A	NP_001289619.1:p.Ala47Thr