ClinVar

NM_001931.5(DLAT):c.1541C>T (p.Ala514Val)

Genes:

PIH1D2:PIH1 domain containing 2 [Gene - HGNC]
DLAT:dihydrolipoamide S-acetyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 112059929 (on Assembly GRCh38)
• Chr11: 111930653 (on Assembly GRCh37)

Preferred name:

NM_001931.5(DLAT):c.1541C>T (p.Ala514Val)

HGVS:

• NC_000011.10:g.112059929C>T
• NG_013342.1:g.40116C>T
• NM_001372031.1:c.1559C>T
• NM_001372032.1:c.1535C>T
• NM_001372033.1:c.1520C>T
• NM_001372034.1:c.1508C>T
• NM_001372035.1:c.1433C>T
• NM_001372036.1:c.1415C>T
• NM_001372037.1:c.1373C>T
• NM_001372038.1:c.1262C>T
• NM_001372039.1:c.1226C>T
• NM_001372040.1:c.1160C>T
• NM_001372041.1:c.1118C>T
• NM_001372042.1:c.1079C>T
• NM_001931.5:c.1541C>TMANE SELECT
• NP_001358960.1:p.Ala520Val
• NP_001358961.1:p.Ala512Val
• NP_001358962.1:p.Ala507Val
• NP_001358963.1:p.Ala503Val
• NP_001358964.1:p.Ala478Val
• NP_001358965.1:p.Ala472Val
• NP_001358966.1:p.Ala458Val
• NP_001358967.1:p.Ala421Val
• NP_001358968.1:p.Ala409Val
• NP_001358969.1:p.Ala387Val
• NP_001358970.1:p.Ala373Val
• NP_001358971.1:p.Ala360Val
• NP_001922.2:p.Ala514Val
• NC_000011.9:g.111930653C>T
• NM_001931.4:c.1541C>T
• NR_164072.1:n.1418C>T

This HGVS expression did not pass validation

Protein change:

A360V

Links:

dbSNP: rs368631614

NCBI 1000 Genomes Browser:

rs368631614

Molecular consequence:

• NM_001372031.1:c.1559C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372032.1:c.1535C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372033.1:c.1520C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372034.1:c.1508C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372035.1:c.1433C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372036.1:c.1415C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372037.1:c.1373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372038.1:c.1262C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372039.1:c.1226C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372040.1:c.1160C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372041.1:c.1118C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372042.1:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001931.5:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_164072.1:n.1418C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]