Canonical Allele Identifier: CA406305072
Community Standard Title: NM_000041.4(APOE):c.761T>C (p.Val254Ala)
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909057T>C , CM000681.2:g.44909057T>C GRCh38
NC_000019.9:g.45412314T>C , CM000681.1:g.45412314T>C GRCh37
NC_000019.8:g.50104154T>C NCBI36
NG_007084.2:g.8276T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000041.4:c.761T>C MANE Select NP_000032.1:p.Val254Ala
ENST00000252486.9:c.761T>C MANE Select ENSP00000252486.3:p.Val254Ala
NM_000041.3:c.761T>C NP_000032.1:p.Val254Ala
NM_001302688.1:c.839T>C NP_001289617.1:p.Val280Ala
NM_001302688.2:c.839T>C NP_001289617.1:p.Val280Ala
NM_001302689.1:c.761T>C NP_001289618.1:p.Val254Ala
NM_001302689.2:c.761T>C NP_001289618.1:p.Val254Ala
NM_001302690.1:c.761T>C NP_001289619.1:p.Val254Ala
NM_001302690.2:c.761T>C NP_001289619.1:p.Val254Ala
NM_001302691.1:c.761T>C NP_001289620.1:p.Val254Ala
NM_001302691.2:c.761T>C NP_001289620.1:p.Val254Ala
ENST00000252486.8:c.761T>C ENSP00000252486.3:p.Val254Ala