Canonical Allele Identifier: CA2338168021
Community Standard Title: NM_000041.4(APOE):c.724C= (p.Arg242=)
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909020C= , CM000681.2:g.44909020C= GRCh38
NC_000019.9:g.45412277C= , CM000681.1:g.45412277C= GRCh37
NC_000019.8:g.50104117C= NCBI36
NG_007084.2:g.8239C=

Transcript Alleles

HGVS Amino-acid Change
NM_000041.4:c.724C= MANE Select NP_000032.1:p.Arg242=
ENST00000252486.9:c.724C= MANE Select ENSP00000252486.3:p.Arg242=
NM_000041.3:c.724C= NP_000032.1:p.Arg242=
NM_001302688.1:c.802C= NP_001289617.1:p.Arg268=
NM_001302688.2:c.802C= NP_001289617.1:p.Arg268=
NM_001302689.1:c.724C= NP_001289618.1:p.Arg242=
NM_001302689.2:c.724C= NP_001289618.1:p.Arg242=
NM_001302690.1:c.724C= NP_001289619.1:p.Arg242=
NM_001302690.2:c.724C= NP_001289619.1:p.Arg242=
NM_001302691.1:c.724C= NP_001289620.1:p.Arg242=
NM_001302691.2:c.724C= NP_001289620.1:p.Arg242=
ENST00000252486.8:c.724C= ENSP00000252486.3:p.Arg242=
ENST00000434152.5:c.802C= ENSP00000413653.2:p.Arg268=