ClinVar

NM_003977.4(AIP):c.175C>T (p.Pro59Ser)

Genes:

LOC130006206:ATAC-STARR-seq lymphoblastoid active region 5107 [Gene]
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67487081 (on Assembly GRCh38)
• Chr11: 67254552 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.175C>T (p.Pro59Ser)

HGVS:

• NC_000011.10:g.67487081C>T
• NG_008969.1:g.9048C>T
• NM_001302959.2:c.-3C>T
• NM_001302960.2:c.175C>T
• NM_003977.4:c.175C>TMANE SELECT
• NP_001289889.1:p.Pro59Ser
• NP_003968.3:p.Pro59Ser
• LRG_460t1:c.175C>T
• LRG_460:g.9048C>T
• NC_000011.9:g.67254552C>T
• NM_003977.2:c.175C>T
• NM_003977.3:c.175C>T

This HGVS expression did not pass validation

Protein change:

P59S

Links:

dbSNP: rs1489553085

NCBI 1000 Genomes Browser:

rs1489553085

Molecular consequence:

• NM_001302959.2:c.-3C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001302960.2:c.175C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003977.4:c.175C>T - missense variant - [Sequence Ontology: SO:0001583]