ClinVar

NM_001018005.2(TPM1):c.413A>C (p.Glu138Ala)

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

• Chr15: 63059601 (on Assembly GRCh38)
• Chr15: 63351800 (on Assembly GRCh37)

Preferred name:

NM_001018005.2(TPM1):c.413A>C (p.Glu138Ala)

HGVS:

• NC_000015.10:g.63059601A>C
• NG_007557.1:g.21963A>C
• NM_000366.6:c.413A>C
• NM_001018004.2:c.413A>C
• NM_001018005.2:c.413A>CMANE SELECT
• NM_001018006.2:c.413A>C
• NM_001018007.2:c.413A>C
• NM_001018008.2:c.305A>C
• NM_001018020.2:c.413A>C
• NM_001301244.2:c.413A>C
• NM_001301289.2:c.305A>C
• NM_001330344.2:c.305A>C
• NM_001330346.2:c.305A>C
• NM_001330351.2:c.305A>C
• NM_001365776.1:c.413A>C
• NM_001365777.1:c.413A>C
• NM_001365778.1:c.539A>C
• NM_001365779.1:c.413A>C
• NM_001365780.1:c.305A>C
• NM_001365781.2:c.305A>C
• NM_001365782.1:c.305A>C
• NP_000357.3:p.Glu138Ala
• NP_001018004.1:p.Glu138Ala
• NP_001018005.1:p.Glu138Ala
• NP_001018006.1:p.Glu138Ala
• NP_001018007.1:p.Glu138Ala
• NP_001018008.1:p.Glu102Ala
• NP_001018020.1:p.Glu138Ala
• NP_001288173.1:p.Glu138Ala
• NP_001288218.1:p.Glu102Ala
• NP_001317273.1:p.Glu102Ala
• NP_001317275.1:p.Glu102Ala
• NP_001317280.1:p.Glu102Ala
• NP_001352705.1:p.Glu138Ala
• NP_001352706.1:p.Glu138Ala
• NP_001352707.1:p.Glu180Ala
• NP_001352708.1:p.Glu138Ala
• NP_001352709.1:p.Glu102Ala
• NP_001352710.1:p.Glu102Ala
• NP_001352711.1:p.Glu102Ala
• LRG_387t1:c.413A>C
• LRG_387:g.21963A>C
• LRG_387p1:p.Glu138Ala
• NC_000015.9:g.63351800A>C

This HGVS expression did not pass validation

Protein change:

E102A

Links:

dbSNP: rs786204410

NCBI 1000 Genomes Browser:

rs786204410

Molecular consequence:

• NM_000366.6:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018004.2:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018005.2:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018006.2:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018007.2:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018008.2:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001018020.2:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301244.2:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301289.2:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330344.2:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330346.2:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330351.2:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365776.1:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365777.1:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365778.1:c.539A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365779.1:c.413A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365780.1:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365781.2:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365782.1:c.305A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1