Canonical Allele Identifier: CA507947629
Gene: APOE HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.45412249G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908992G>C , CM000681.2:g.44908992G>C GRCh38
NC_000019.9:g.45412249G>C , CM000681.1:g.45412249G>C GRCh37
NC_000019.8:g.50104089G>C NCBI36
NG_007084.2:g.8211G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.696G>C MANE Select ENSP00000252486.3:p.Leu232=
ENST00000252486.8:c.696G>C ENSP00000252486.3:p.Leu232=
ENST00000434152.5:c.774G>C ENSP00000413653.2:p.Leu258=
NM_000041.3:c.696G>C NP_000032.1:p.Leu232=
NM_001302688.1:c.774G>C NP_001289617.1:p.Leu258=
NM_001302689.1:c.696G>C NP_001289618.1:p.Leu232=
NM_001302690.1:c.696G>C NP_001289619.1:p.Leu232=
NM_001302691.1:c.696G>C NP_001289620.1:p.Leu232=
NM_000041.4:c.696G>C MANE Select NP_000032.1:p.Leu232=
NM_001302688.2:c.774G>C NP_001289617.1:p.Leu258=
NM_001302689.2:c.696G>C NP_001289618.1:p.Leu232=
NM_001302691.2:c.696G>C NP_001289620.1:p.Leu232=
NM_001302690.2:c.696G>C NP_001289619.1:p.Leu232=