Canonical Allele Identifier: CA345321

Gene: APOE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908660C>A , CM000681.2:g.44908660C>A	GRCh38
NC_000019.9:g.45411917C>A , CM000681.1:g.45411917C>A	GRCh37
NC_000019.8:g.50103757C>A	NCBI36
NG_007084.2:g.7879C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000041.4:c.364C>A MANE Select	NP_000032.1:p.Leu122Met
ENST00000252486.9:c.364C>A MANE Select	ENSP00000252486.3:p.Leu122Met
NM_000041.3:c.364C>A	NP_000032.1:p.Leu122Met
NM_001302688.1:c.442C>A	NP_001289617.1:p.Leu148Met
NM_001302688.2:c.442C>A	NP_001289617.1:p.Leu148Met
NM_001302689.1:c.364C>A	NP_001289618.1:p.Leu122Met
NM_001302689.2:c.364C>A	NP_001289618.1:p.Leu122Met
NM_001302690.1:c.364C>A	NP_001289619.1:p.Leu122Met
NM_001302690.2:c.364C>A	NP_001289619.1:p.Leu122Met
NM_001302691.1:c.364C>A	NP_001289620.1:p.Leu122Met
NM_001302691.2:c.364C>A	NP_001289620.1:p.Leu122Met
ENST00000252486.8:c.364C>A	ENSP00000252486.3:p.Leu122Met
ENST00000425718.1:c.364C>A	ENSP00000410423.1:p.Leu122Met
ENST00000434152.5:c.442C>A	ENSP00000413653.2:p.Leu148Met
ENST00000446996.5:c.364C>A	ENSP00000413135.1:p.Leu122Met