ClinVar

NM_003978.5(PSTPIP1):c.162G>A (p.Gly54=)

Gene:

PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.3

Genomic location:

• Chr15: 77018481 (on Assembly GRCh38)
• Chr15: 77310822 (on Assembly GRCh37)

Preferred name:

NM_003978.5(PSTPIP1):c.162G>A (p.Gly54=)

HGVS:

• NC_000015.10:g.77018481G>A
• NG_007526.1:g.28358G>A
• NM_001321135.2:c.162G>A
• NM_001321136.2:c.135G>A
• NM_001321137.1:c.357G>A
• NM_001411086.1:c.162G>A
• NM_003978.5:c.162G>AMANE SELECT
• NP_001308064.1:p.Gly54=
• NP_001308065.1:p.Gly45=
• NP_001308066.1:p.Gly119=
• NP_001398015.1:p.Gly54=
• NP_003969.2:p.Gly54=
• NP_003969.2:p.Gly54=
• LRG_172t1:c.162G>A
• LRG_172:g.28358G>A
• LRG_172p1:p.Gly54=
• NC_000015.9:g.77310822G>A
• NM_003978.3:c.162G>A
• NR_135552.2:n.610G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_135552.2:n.610G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001321135.2:c.162G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321136.2:c.135G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321137.1:c.357G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001411086.1:c.162G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003978.5:c.162G>A - synonymous variant - [Sequence Ontology: SO:0001819]