ClinVar

NM_002017.5(FLI1):c.1014C>A (p.Ala338=)

Gene:

FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.3

Genomic location:

• Chr11: 128810643 (on Assembly GRCh38)
• Chr11: 128680538 (on Assembly GRCh37)

Preferred name:

NM_002017.5(FLI1):c.1014C>A (p.Ala338=)

HGVS:

• NC_000011.10:g.128810643C>A
• NG_032912.1:g.129109C>A
• NM_001167681.3:c.915C>A
• NM_001271010.2:c.816C>A
• NM_001271012.2:c.435C>A
• NM_002017.5:c.1014C>AMANE SELECT
• NP_001161153.1:p.Ala305=
• NP_001257939.1:p.Ala272=
• NP_001257941.1:p.Ala145=
• NP_002008.2:p.Ala338=
• LRG_646t1:c.915C>A
• LRG_646t2:c.816C>A
• LRG_646t3:c.435C>A
• LRG_646t4:c.1014C>A
• LRG_646:g.129109C>A
• LRG_646p1:p.Ala305=
• LRG_646p2:p.Ala272=
• LRG_646p3:p.Ala145=
• LRG_646p4:p.Ala338=
• NC_000011.9:g.128680538C>A
• NC_000011.9:g.128680538C>A
• NM_002017.4:c.1014C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1186925913

NCBI 1000 Genomes Browser:

rs1186925913

Molecular consequence:

• NM_001167681.3:c.915C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271010.2:c.816C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271012.2:c.435C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002017.5:c.1014C>A - synonymous variant - [Sequence Ontology: SO:0001819]