ClinVar

NM_000039.3(APOA1):c.162G>C (p.Val54=)

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: 116837039 (on Assembly GRCh38)
• Chr11: 116707755 (on Assembly GRCh37)

Preferred name:

NM_000039.3(APOA1):c.162G>C (p.Val54=)

HGVS:

• NC_000011.10:g.116837039C>G
• NG_012021.1:g.5584G>C
• NM_000039.3:c.162G>CMANE SELECT
• NM_001318017.2:c.162G>C
• NM_001318018.2:c.162G>C
• NM_001318021.2:c.-166G>C
• NP_000030.1:p.Val54=
• NP_000030.1:p.Val54=
• NP_001304946.1:p.Val54=
• NP_001304947.1:p.Val54=
• LRG_767t1:c.162G>C
• LRG_767:g.5584G>C
• LRG_767p1:p.Val54=
• NC_000011.9:g.116707755C>G
• NM_000039.1:c.162G>C
• NM_001318021.1:c.-166G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs193922099

NCBI 1000 Genomes Browser:

rs193922099

Molecular consequence:

• NM_000039.3:c.162G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318017.2:c.162G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318018.2:c.162G>C - synonymous variant - [Sequence Ontology: SO:0001819]