ClinVar

NM_001040716.2(PC):c.3391G>A (p.Val1131Met)

Gene:

PC:pyruvate carboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 66849045 (on Assembly GRCh38)
• Chr11: 66616516 (on Assembly GRCh37)

Preferred name:

NM_001040716.2(PC):c.3391G>A (p.Val1131Met)

HGVS:

• NC_000011.10:g.66849045C>T
• NG_008319.1:g.114332G>A
• NM_000920.4:c.3391G>A
• NM_001040716.2:c.3391G>AMANE SELECT
• NM_022172.3:c.3391G>A
• NP_000911.2:p.Val1131Met
• NP_001035806.1:p.Val1131Met
• NP_071504.2:p.Val1131Met
• NC_000011.9:g.66616516C>T
• NM_000920.3:c.3391G>A

This HGVS expression did not pass validation

Protein change:

V1131M

Links:

dbSNP: rs116518022

NCBI 1000 Genomes Browser:

rs116518022

Molecular consequence:

• NM_000920.4:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040716.2:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022172.3:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]