Canonical Allele Identifier: CA507947411
Gene: APOE HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.45412150G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908893G>C , CM000681.2:g.44908893G>C GRCh38
NC_000019.9:g.45412150G>C , CM000681.1:g.45412150G>C GRCh37
NC_000019.8:g.50103990G>C NCBI36
NG_007084.2:g.8112G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.597G>C MANE Select ENSP00000252486.3:p.Leu199=
ENST00000252486.8:c.597G>C ENSP00000252486.3:p.Leu199=
ENST00000425718.1:c.597G>C ENSP00000410423.1:p.Leu199=
ENST00000434152.5:c.675G>C ENSP00000413653.2:p.Leu225=
ENST00000446996.5:c.597G>C ENSP00000413135.1:p.Leu199=
NM_000041.3:c.597G>C NP_000032.1:p.Leu199=
NM_001302688.1:c.675G>C NP_001289617.1:p.Leu225=
NM_001302689.1:c.597G>C NP_001289618.1:p.Leu199=
NM_001302690.1:c.597G>C NP_001289619.1:p.Leu199=
NM_001302691.1:c.597G>C NP_001289620.1:p.Leu199=
NM_000041.4:c.597G>C MANE Select NP_000032.1:p.Leu199=
NM_001302688.2:c.675G>C NP_001289617.1:p.Leu225=
NM_001302689.2:c.597G>C NP_001289618.1:p.Leu199=
NM_001302691.2:c.597G>C NP_001289620.1:p.Leu199=
NM_001302690.2:c.597G>C NP_001289619.1:p.Leu199=