ClinVar

NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)

Genes:

APOA1-AS:APOA1 antisense RNA [Gene - OMIM - HGNC]
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 116836158 (on Assembly GRCh38)
• Chr11: 116706874 (on Assembly GRCh37)

Preferred name:

NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)

HGVS:

• NC_000011.10:g.116836158C>T
• NG_012021.1:g.6465G>A
• NM_000039.3:c.454G>AMANE SELECT
• NM_001318017.2:c.454G>A
• NM_001318018.2:c.454G>A
• NM_001318021.2:c.127G>A
• NP_000030.1:p.Glu152Lys
• NP_000030.1:p.Glu152Lys
• NP_001304946.1:p.Glu152Lys
• NP_001304947.1:p.Glu152Lys
• NP_001304950.1:p.Glu43Lys
• NP_001304950.1:p.Glu43Lys
• LRG_767t1:c.454G>A
• LRG_767:g.6465G>A
• LRG_767p1:p.Glu152Lys
• NC_000011.9:g.116706874C>T
• NM_000039.1:c.454G>A
• NM_001318021.1:c.127G>A
• NR_126362.1:n.42C>T

This HGVS expression did not pass validation

Protein change:

E152K

Links:

dbSNP: rs574061789

NCBI 1000 Genomes Browser:

rs574061789

Molecular consequence:

• NM_000039.3:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318017.2:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318018.2:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318021.2:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_126362.1:n.42C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]