ClinVar

NM_000175.5(GPI):c.695C>T (p.Ala232Val)

Gene:

GPI:glucose-6-phosphate isomerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 34378995 (on Assembly GRCh38)
• Chr19: 34869900 (on Assembly GRCh37)

Preferred name:

NM_000175.5(GPI):c.695C>T (p.Ala232Val)

Other names:

p.Ala232Val

HGVS:

• NC_000019.10:g.34378995C>T
• NG_012838.3:g.24404C>T
• NM_000175.5:c.695C>TMANE SELECT
• NM_001184722.1:c.728C>T
• NM_001289789.1:c.812C>T
• NM_001289790.3:c.611C>T
• NM_001329909.1:c.695C>T
• NM_001329910.1:c.695C>T
• NM_001329911.2:c.695C>T
• NP_000166.2:p.Ala232Val
• NP_001171651.1:p.Ala243Val
• NP_001276718.1:p.Ala271Val
• NP_001276719.1:p.Ala204Val
• NP_001316838.1:p.Ala232Val
• NP_001316839.1:p.Ala232Val
• NP_001316840.1:p.Ala232Val
• LRG_1178t1:c.695C>T
• LRG_1178:g.24404C>T
• LRG_1178p1:p.Ala232Val
• NC_000019.9:g.34869900C>T
• NM_000175.3:c.695C>T

This HGVS expression did not pass validation

Protein change:

A204V

Molecular consequence:

• NM_000175.5:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184722.1:c.728C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289789.1:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289790.3:c.611C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329909.1:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329910.1:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329911.2:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1