ClinVar

NM_000460.4(THPO):c.515G>A (p.Cys172Tyr)

Gene:

THPO:thrombopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184373060 (on Assembly GRCh38)
• Chr3: 184090848 (on Assembly GRCh37)

Preferred name:

NM_000460.4(THPO):c.515G>A (p.Cys172Tyr)

HGVS:

• NC_000003.12:g.184373060C>T
• NG_012136.1:g.10085G>A
• NM_000460.4:c.515G>AMANE SELECT
• NM_001177597.2:c.503G>A
• NM_001177598.2:c.498G>A
• NM_001289997.1:c.477+38G>A
• NM_001289998.1:c.515G>A
• NM_001290003.1:c.935G>A
• NM_001290022.1:c.503G>A
• NM_001290026.1:c.498G>A
• NM_001290027.1:c.477+38G>A
• NM_001290028.1:c.515G>A
• NP_000451.1:p.Cys172Tyr
• NP_001171068.1:p.Cys168Tyr
• NP_001171069.1:p.Leu166=
• NP_001276927.1:p.Cys172Tyr
• NP_001276932.1:p.Cys312Tyr
• NP_001276951.1:p.Cys168Tyr
• NP_001276955.1:p.Leu166=
• NP_001276957.1:p.Cys172Tyr
• LRG_580t1:c.515G>A
• LRG_580:g.10085G>A
• LRG_580p1:p.Cys172Tyr
• NC_000003.11:g.184090848C>T
• NM_000460.2:c.515G>A

This HGVS expression did not pass validation

Protein change:

C168Y

Molecular consequence:

• NM_001289997.1:c.477+38G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290027.1:c.477+38G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000460.4:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177597.2:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289998.1:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290003.1:c.935G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290022.1:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290028.1:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177598.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290026.1:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]