Canonical Allele Identifier: CA406304860

Gene: APOE

Linked Data

• gnomAD v4: 19-44909021-G-T
• MyVariant Identifiers: chr19:g.45412278G>T (hg19) ; chr19:g.44909021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909021G>T , CM000681.2:g.44909021G>T	GRCh38
NC_000019.9:g.45412278G>T , CM000681.1:g.45412278G>T	GRCh37
NC_000019.8:g.50104118G>T	NCBI36
NG_007084.2:g.8240G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.725G>T MANE Select	ENSP00000252486.3:p.Arg242Leu
ENST00000252486.8:c.725G>T	ENSP00000252486.3:p.Arg242Leu
ENST00000434152.5:c.803G>T	ENSP00000413653.2:p.Arg268Leu
NM_000041.3:c.725G>T	NP_000032.1:p.Arg242Leu
NM_001302688.1:c.803G>T	NP_001289617.1:p.Arg268Leu
NM_001302689.1:c.725G>T	NP_001289618.1:p.Arg242Leu
NM_001302690.1:c.725G>T	NP_001289619.1:p.Arg242Leu
NM_001302691.1:c.725G>T	NP_001289620.1:p.Arg242Leu
NM_000041.4:c.725G>T MANE Select	NP_000032.1:p.Arg242Leu
NM_001302688.2:c.803G>T	NP_001289617.1:p.Arg268Leu
NM_001302689.2:c.725G>T	NP_001289618.1:p.Arg242Leu
NM_001302691.2:c.725G>T	NP_001289620.1:p.Arg242Leu
NM_001302690.2:c.725G>T	NP_001289619.1:p.Arg242Leu