ClinVar

NM_003977.4(AIP):c.189C>A (p.Ile63=)

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: 67487095 (on Assembly GRCh38)
• Chr11: 67254566 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.189C>A (p.Ile63=)

HGVS:

• NC_000011.10:g.67487095C>A
• NG_008969.1:g.9062C>A
• NM_001302959.2:c.12C>A
• NM_001302960.2:c.189C>A
• NM_003977.4:c.189C>AMANE SELECT
• NP_001289888.1:p.Ile4=
• NP_001289889.1:p.Ile63=
• NP_003968.2:p.Ile63=
• NP_003968.3:p.Ile63=
• LRG_460t1:c.189C>A
• LRG_460:g.9062C>A
• LRG_460p1:p.Ile63=
• NC_000011.9:g.67254566C>A
• NM_003977.2:c.189C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001302959.2:c.12C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302960.2:c.189C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003977.4:c.189C>A - synonymous variant - [Sequence Ontology: SO:0001819]