ClinVar

NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6425489 (on Assembly GRCh38)
• Chr17: 6328809 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)

HGVS:

• NC_000017.11:g.6425489G>A
• NG_008474.1:g.14711C>T
• NM_001033054.3:c.937C>T
• NM_001033055.3:c.946C>T
• NM_001285399.3:c.1090C>T
• NM_001285400.3:c.1060C>T
• NM_001285401.3:c.1054C>T
• NM_001285402.2:c.1009C>T
• NM_001285403.4:c.*1097C>T
• NM_014336.5:c.1126C>TMANE SELECT
• NP_001028226.1:p.Pro313Ser
• NP_001028227.1:p.Pro316Ser
• NP_001272328.1:p.Pro364Ser
• NP_001272329.1:p.Pro354Ser
• NP_001272330.1:p.Pro352Ser
• NP_001272331.1:p.Pro337Ser
• NP_055151.3:p.Pro376Ser
• NC_000017.10:g.6328809G>A
• NM_014336.3:c.1126C>T
• NM_014336.4:c.1126C>T

This HGVS expression did not pass validation

Protein change:

P313S

Links:

dbSNP: rs61757484

NCBI 1000 Genomes Browser:

rs61757484

Molecular consequence:

• NM_001285403.4:c.*1097C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001033054.3:c.937C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033055.3:c.946C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285399.3:c.1090C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285400.3:c.1060C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285401.3:c.1054C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001285402.2:c.1009C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014336.5:c.1126C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1