Canonical Allele Identifier: CA406304732

Gene: APOE

Linked Data

• dbSNP Id: rs554251788
• gnomAD v4: 19-44908993-C-T
• MyVariant Identifiers: chr19:g.45412250C>T (hg19) ; chr19:g.44908993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908993C>T , CM000681.2:g.44908993C>T	GRCh38
NC_000019.9:g.45412250C>T , CM000681.1:g.45412250C>T	GRCh37
NC_000019.8:g.50104090C>T	NCBI36
NG_007084.2:g.8212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.697C>T MANE Select	ENSP00000252486.3:p.Arg233Cys
ENST00000252486.8:c.697C>T	ENSP00000252486.3:p.Arg233Cys
ENST00000434152.5:c.775C>T	ENSP00000413653.2:p.Arg259Cys
NM_000041.3:c.697C>T	NP_000032.1:p.Arg233Cys
NM_001302688.1:c.775C>T	NP_001289617.1:p.Arg259Cys
NM_001302689.1:c.697C>T	NP_001289618.1:p.Arg233Cys
NM_001302690.1:c.697C>T	NP_001289619.1:p.Arg233Cys
NM_001302691.1:c.697C>T	NP_001289620.1:p.Arg233Cys
NM_000041.4:c.697C>T MANE Select	NP_000032.1:p.Arg233Cys
NM_001302688.2:c.775C>T	NP_001289617.1:p.Arg259Cys
NM_001302689.2:c.697C>T	NP_001289618.1:p.Arg233Cys
NM_001302691.2:c.697C>T	NP_001289620.1:p.Arg233Cys
NM_001302690.2:c.697C>T	NP_001289619.1:p.Arg233Cys