ClinVar

NM_001136035.4(TRMT1):c.1028C>T (p.Ala343Val)

Gene:

TRMT1:tRNA methyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13109993 (on Assembly GRCh38)
• Chr19: 13220807 (on Assembly GRCh37)

Preferred name:

NM_001136035.4(TRMT1):c.1028C>T (p.Ala343Val)

HGVS:

• NC_000019.10:g.13109993G>A
• NG_054900.1:g.12575C>T
• NG_140487.1:g.443G>A
• NM_001136035.2:c.1028C>T
• NM_001136035.4:c.1028C>TMANE SELECT
• NM_001142554.3:c.1020-155C>T
• NM_001351760.2:c.1020-155C>T
• NM_001351761.2:c.920C>T
• NM_001351762.2:c.245C>T
• NM_017722.5:c.1028C>T
• NP_001129507.1:p.Ala343Val
• NP_001338690.1:p.Ala307Val
• NP_001338691.1:p.Ala82Val
• NP_060192.1:p.Ala343Val
• NC_000019.9:g.13220807G>A
• NM_017722.3:c.1028C>T

This HGVS expression did not pass validation

Protein change:

A307V

Molecular consequence:

• NM_001142554.3:c.1020-155C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351760.2:c.1020-155C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001136035.4:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351761.2:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351762.2:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017722.5:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]