Canonical Allele Identifier: CA308886167

Gene: APOE

Linked Data

• dbSNP Id: rs1039600156
• gnomAD v2: 19-45412443-T-C
• gnomAD v3: 19-44909186-T-C
• gnomAD v4: 19-44909186-T-C
• MyVariant Identifiers: chr19:g.45412443T>C (hg19) ; chr19:g.44909186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909186T>C , CM000681.2:g.44909186T>C	GRCh38
NC_000019.9:g.45412443T>C , CM000681.1:g.45412443T>C	GRCh37
NC_000019.8:g.50104283T>C	NCBI36
NG_007084.2:g.8405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.890T>C MANE Select	ENSP00000252486.3:p.Leu297Pro
ENST00000252486.8:c.890T>C	ENSP00000252486.3:p.Leu297Pro
NM_000041.3:c.890T>C	NP_000032.1:p.Leu297Pro
NM_001302688.1:c.968T>C	NP_001289617.1:p.Leu323Pro
NM_001302689.1:c.890T>C	NP_001289618.1:p.Leu297Pro
NM_001302690.1:c.890T>C	NP_001289619.1:p.Leu297Pro
NM_001302691.1:c.890T>C	NP_001289620.1:p.Leu297Pro
NM_000041.4:c.890T>C MANE Select	NP_000032.1:p.Leu297Pro
NM_001302688.2:c.968T>C	NP_001289617.1:p.Leu323Pro
NM_001302689.2:c.890T>C	NP_001289618.1:p.Leu297Pro
NM_001302691.2:c.890T>C	NP_001289620.1:p.Leu297Pro
NM_001302690.2:c.890T>C	NP_001289619.1:p.Leu297Pro