ClinVar

NM_002435.3(MPI):c.693G>A (p.Glu231=)

Gene:

MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74896174 (on Assembly GRCh38)
• Chr15: 75188515 (on Assembly GRCh37)

Preferred name:

NM_002435.3(MPI):c.693G>A (p.Glu231=)

HGVS:

• NC_000015.10:g.74896174G>A
• NG_008921.1:g.11106G>A
• NM_001289155.2:c.693G>A
• NM_001289156.2:c.543G>A
• NM_001289157.2:c.510G>A
• NM_001330372.2:c.633G>A
• NM_002435.3:c.693G>AMANE SELECT
• NP_001276084.1:p.Glu231=
• NP_001276085.1:p.Glu181=
• NP_001276086.1:p.Glu170=
• NP_001317301.1:p.Glu211=
• NP_002426.1:p.Glu231=
• NC_000015.9:g.75188515G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2141206565

NCBI 1000 Genomes Browser:

rs2141206565

Molecular consequence:

• NM_001289155.2:c.693G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289156.2:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289157.2:c.510G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330372.2:c.633G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002435.3:c.693G>A - synonymous variant - [Sequence Ontology: SO:0001819]