ClinVar

NM_014336.5(AIPL1):c.995C>T (p.Thr332Met)

Gene:

AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6425620 (on Assembly GRCh38)
• Chr17: 6328940 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.995C>T (p.Thr332Met)

HGVS:

• NC_000017.11:g.6425620G>A
• NG_008474.1:g.14580C>T
• NM_001033054.3:c.806C>T
• NM_001033055.3:c.815C>T
• NM_001285399.3:c.959C>T
• NM_001285400.3:c.929C>T
• NM_001285401.3:c.923C>T
• NM_001285402.2:c.878C>T
• NM_001285403.4:c.*966C>T
• NM_014336.3:c.995C>T
• NM_014336.5:c.995C>TMANE SELECT
• NP_001028226.1:p.Thr269Met
• NP_001028227.1:p.Thr272Met
• NP_001272328.1:p.Thr320Met
• NP_001272329.1:p.Thr310Met
• NP_001272330.1:p.Thr308Met
• NP_001272331.1:p.Thr293Met
• NP_055151.3:p.Thr332Met
• NC_000017.10:g.6328940G>A

This HGVS expression did not pass validation

Protein change:

T269M

Links:

dbSNP: rs770159814

NCBI 1000 Genomes Browser:

rs770159814

Molecular consequence:

• NM_001285403.4:c.*966C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001033054.3:c.806C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033055.3:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285399.3:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285400.3:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285401.3:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285402.2:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014336.5:c.995C>T - missense variant - [Sequence Ontology: SO:0001583]