ClinVar

NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6434038 (on Assembly GRCh38)
• Chr17: 6337358 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp)

HGVS:

• NC_000017.11:g.6434038G>A
• NG_008474.1:g.6162C>T
• NM_001033054.3:c.157C>T
• NM_001033055.3:c.96+971C>T
• NM_001285399.3:c.121C>T
• NM_001285400.3:c.97-6C>T
• NM_001285401.3:c.157C>T
• NM_001285402.2:c.40C>T
• NM_001285403.4:c.157C>T
• NM_014336.5:c.157C>TMANE SELECT
• NP_001028226.1:p.Arg53Trp
• NP_001272328.1:p.Arg41Trp
• NP_001272330.1:p.Arg53Trp
• NP_001272331.1:p.Arg14Trp
• NP_001272332.1:p.Arg53Trp
• NP_055151.3:p.Arg53Trp
• NC_000017.10:g.6337358G>A
• NM_014336.3:c.157C>T
• NM_014336.4:c.157C>T

This HGVS expression did not pass validation

Protein change:

R14W

Links:

dbSNP: rs62637008

NCBI 1000 Genomes Browser:

rs62637008

Molecular consequence:

• NM_001033055.3:c.96+971C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001285400.3:c.97-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033054.3:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285399.3:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285401.3:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285402.2:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285403.4:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014336.5:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]