Canonical Allele Identifier: CA9505984

Gene: APOE

Linked Data

• dbSNP Id: rs746975744
• ExAC: 19:45411102 C / T
• gnomAD v2: 19-45411102-C-T
• MyVariant Identifiers: chr19:g.45411102C>T (hg19) ; chr19:g.44907845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44907845C>T , CM000681.2:g.44907845C>T	GRCh38
NC_000019.9:g.45411102C>T , CM000681.1:g.45411102C>T	GRCh37
NC_000019.8:g.50102942C>T	NCBI36
NG_007084.2:g.7064C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.129C>T MANE Select	ENSP00000252486.3:p.Arg43=
ENST00000252486.8:c.129C>T	ENSP00000252486.3:p.Arg43=
ENST00000425718.1:c.129C>T	ENSP00000410423.1:p.Arg43=
ENST00000434152.5:c.207C>T	ENSP00000413653.2:p.Arg69=
ENST00000446996.5:c.129C>T	ENSP00000413135.1:p.Arg43=
NM_000041.3:c.129C>T	NP_000032.1:p.Arg43=
NM_001302688.1:c.207C>T	NP_001289617.1:p.Arg69=
NM_001302689.1:c.129C>T	NP_001289618.1:p.Arg43=
NM_001302690.1:c.129C>T	NP_001289619.1:p.Arg43=
NM_001302691.1:c.129C>T	NP_001289620.1:p.Arg43=
NM_000041.4:c.129C>T MANE Select	NP_000032.1:p.Arg43=
NM_001302688.2:c.207C>T	NP_001289617.1:p.Arg69=
NM_001302689.2:c.129C>T	NP_001289618.1:p.Arg43=
NM_001302691.2:c.129C>T	NP_001289620.1:p.Arg43=
NM_001302690.2:c.129C>T	NP_001289619.1:p.Arg43=