ClinVar

NM_000175.5(GPI):c.1615G>A (p.Asp539Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 34399974 (on Assembly GRCh38)
• Chr19: 34890879 (on Assembly GRCh37)

Preferred name:

NM_000175.5(GPI):c.1615G>A (p.Asp539Asn)

HGVS:

• NC_000019.10:g.34399974G>A
• NG_012838.3:g.45383G>A
• NM_000175.5:c.1615G>AMANE SELECT
• NM_001184722.1:c.1648G>A
• NM_001289789.1:c.1732G>A
• NM_001289790.3:c.1531G>A
• NM_001329909.1:c.1615G>A
• NM_001329910.1:c.1615G>A
• NM_001329911.2:c.1588G>A
• NP_000166.2:p.Asp539Asn
• NP_001171651.1:p.Asp550Asn
• NP_001276718.1:p.Asp578Asn
• NP_001276719.1:p.Asp511Asn
• NP_001316838.1:p.Asp539Asn
• NP_001316839.1:p.Asp539Asn
• NP_001316840.1:p.Asp530Asn
• LRG_1178t1:c.1615G>A
• LRG_1178:g.45383G>A
• LRG_1178p1:p.Asp539Asn
• NC_000019.9:g.34890879G>A
• P06744:p.Asp539Asn

This HGVS expression did not pass validation

Protein change:

D511N; ASP539ASN

Links:

UniProtKB: P06744#VAR_002538; OMIM: 172400.0004; OMIM: 172400.0011; dbSNP: rs137853585

NCBI 1000 Genomes Browser:

rs137853585

Molecular consequence:

• NM_000175.5:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184722.1:c.1648G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289789.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289790.3:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329909.1:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329910.1:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329911.2:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]