ClinVar

NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)

Gene:

ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.2

Genomic location:

• Chr2: 29220829 (on Assembly GRCh38)
• Chr2: 29443695 (on Assembly GRCh37)

Preferred name:

NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)

HGVS:

• NC_000002.12:g.29220829G>C
• NG_009445.1:g.705738C>G
• NM_001353765.2:c.318C>G
• NM_004304.5:c.3522C>GMANE SELECT
• NP_001340694.1:p.Phe106Leu
• NP_004295.2:p.Phe1174Leu
• LRG_488:g.705738C>G
• NC_000002.11:g.29443695G>C
• NM_004304.4:c.3522C>G
• Q9UM73:p.Phe1174Leu

This HGVS expression did not pass validation

Protein change:

F106L

Links:

UniProtKB: Q9UM73#VAR_063857; dbSNP: rs863225281

NCBI 1000 Genomes Browser:

rs863225281

Molecular consequence:

• NM_001353765.2:c.318C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004304.5:c.3522C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2