ClinVar

NM_000039.3(APOA1):c.420C>T (p.Arg140=)

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: 116836192 (on Assembly GRCh38)
• Chr11: 116706908 (on Assembly GRCh37)

Preferred name:

NM_000039.3(APOA1):c.420C>T (p.Arg140=)

HGVS:

• NC_000011.10:g.116836192G>A
• NG_012021.1:g.6431C>T
• NM_000039.3:c.420C>TMANE SELECT
• NM_001318017.2:c.420C>T
• NM_001318018.2:c.420C>T
• NM_001318021.2:c.93C>T
• NM_001425090.1:c.420C>T
• NM_001425091.1:c.93C>T
• NM_001425092.1:c.93C>T
• NM_001425093.1:c.420C>T
• NP_000030.1:p.Arg140=
• NP_000030.1:p.Arg140=
• NP_001304946.1:p.Arg140=
• NP_001304947.1:p.Arg140=
• NP_001304950.1:p.Arg31=
• NP_001304950.1:p.Arg31=
• NP_001412019.1:p.Arg140=
• NP_001412020.1:p.Arg31=
• NP_001412021.1:p.Arg31=
• NP_001412022.1:p.Arg140=
• LRG_767t1:c.420C>T
• LRG_767:g.6431C>T
• LRG_767p1:p.Arg140=
• NC_000011.9:g.116706908G>A
• NM_000039.1:c.420C>T
• NM_001318021.1:c.93C>T
• NR_126362.1:n.76G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_126362.1:n.76G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000039.3:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318017.2:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318018.2:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318021.2:c.93C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001425090.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001425091.1:c.93C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001425092.1:c.93C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001425093.1:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]