ClinVar

NM_001387011.1(AMBRA1):c.3128C>T (p.Ser1043Phe)

Gene:

AMBRA1:autophagy and beclin 1 regulator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 46410357 (on Assembly GRCh38)
• Chr11: 46431907 (on Assembly GRCh37)

Preferred name:

NM_001387011.1(AMBRA1):c.3128C>T (p.Ser1043Phe)

HGVS:

• NC_000011.10:g.46410357G>A
• NM_001267782.2:c.3137C>T
• NM_001267783.2:c.2771C>T
• NM_001300731.2:c.2948C>T
• NM_001367468.1:c.3128C>T
• NM_001367469.1:c.2591C>T
• NM_001367470.1:c.2321C>T
• NM_001367471.1:c.2858C>T
• NM_001387011.1:c.3128C>TMANE SELECT
• NM_017749.3:c.2858C>T
• NP_001254711.1:p.Ser1046Phe
• NP_001254712.1:p.Ser924Phe
• NP_001287660.1:p.Ser983Phe
• NP_001354397.1:p.Ser1043Phe
• NP_001354398.1:p.Ser864Phe
• NP_001354399.1:p.Ser774Phe
• NP_001354400.1:p.Ser953Phe
• NP_001373940.1:p.Ser1043Phe
• NP_060219.2:p.Ser953Phe
• NC_000011.9:g.46431907G>A
• NR_160027.1:n.3291C>T

This HGVS expression did not pass validation

Protein change:

S1043F

Links:

dbSNP: rs776724460

NCBI 1000 Genomes Browser:

rs776724460

Molecular consequence:

• NM_001267782.2:c.3137C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267783.2:c.2771C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300731.2:c.2948C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367468.1:c.3128C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367469.1:c.2591C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367470.1:c.2321C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367471.1:c.2858C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387011.1:c.3128C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017749.3:c.2858C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_160027.1:n.3291C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]