Canonical Allele Identifier: CA406305135

Gene: APOE

Linked Data

• dbSNP Id: rs1969881980
• MyVariant Identifiers: chr19:g.45412322G>C (hg19) ; chr19:g.44909065G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909065G>C , CM000681.2:g.44909065G>C	GRCh38
NC_000019.9:g.45412322G>C , CM000681.1:g.45412322G>C	GRCh37
NC_000019.8:g.50104162G>C	NCBI36
NG_007084.2:g.8284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.769G>C MANE Select	ENSP00000252486.3:p.Val257Leu
ENST00000252486.8:c.769G>C	ENSP00000252486.3:p.Val257Leu
NM_000041.3:c.769G>C	NP_000032.1:p.Val257Leu
NM_001302688.1:c.847G>C	NP_001289617.1:p.Val283Leu
NM_001302689.1:c.769G>C	NP_001289618.1:p.Val257Leu
NM_001302690.1:c.769G>C	NP_001289619.1:p.Val257Leu
NM_001302691.1:c.769G>C	NP_001289620.1:p.Val257Leu
NM_000041.4:c.769G>C MANE Select	NP_000032.1:p.Val257Leu
NM_001302688.2:c.847G>C	NP_001289617.1:p.Val283Leu
NM_001302689.2:c.769G>C	NP_001289618.1:p.Val257Leu
NM_001302691.2:c.769G>C	NP_001289620.1:p.Val257Leu
NM_001302690.2:c.769G>C	NP_001289619.1:p.Val257Leu