ClinVar

NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6425644 (on Assembly GRCh38)
• Chr17: 6328964 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)

HGVS:

• NC_000017.11:g.6425644C>A
• NG_008474.1:g.14556G>T
• NM_001033054.3:c.782G>T
• NM_001033055.3:c.791G>T
• NM_001285399.3:c.935G>T
• NM_001285400.3:c.905G>T
• NM_001285401.3:c.899G>T
• NM_001285402.2:c.854G>T
• NM_001285403.4:c.*942G>T
• NM_014336.5:c.971G>TMANE SELECT
• NP_001028226.1:p.Arg261Leu
• NP_001028227.1:p.Arg264Leu
• NP_001272328.1:p.Arg312Leu
• NP_001272329.1:p.Arg302Leu
• NP_001272330.1:p.Arg300Leu
• NP_001272331.1:p.Arg285Leu
• NP_055151.3:p.Arg324Leu
• NC_000017.10:g.6328964C>A
• NM_014336.3:c.971G>T
• NM_014336.4:c.971G>T

This HGVS expression did not pass validation

Protein change:

R261L

Links:

dbSNP: rs150427474

NCBI 1000 Genomes Browser:

rs150427474

Molecular consequence:

• NM_001285403.4:c.*942G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001033054.3:c.782G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033055.3:c.791G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285399.3:c.935G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285400.3:c.905G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285401.3:c.899G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285402.2:c.854G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014336.5:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]