ClinVar

NM_020775.5(ELAPOR1):c.2939C>T (p.Ser980Leu)

Gene:

ELAPOR1:endosome-lysosome associated apoptosis and autophagy regulator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

• Chr1: 109200866 (on Assembly GRCh38)
• Chr1: 109743488 (on Assembly GRCh37)

Preferred name:

NM_020775.5(ELAPOR1):c.2939C>T (p.Ser980Leu)

HGVS:

• NC_000001.11:g.109200866C>T
• NG_032763.1:g.91904C>T
• NG_032763.2:g.91753C>T
• NM_001267048.2:c.2678C>T
• NM_001284352.2:c.2633C>T
• NM_001284353.2:c.1925C>T
• NM_020775.5:c.2939C>TMANE SELECT
• NP_001253977.2:p.Ser893Leu
• NP_001271281.1:p.Ser878Leu
• NP_001271282.1:p.Ser642Leu
• NP_065826.3:p.Ser980Leu
• NC_000001.10:g.109743488C>T
• NM_020775.3:c.2939C>T
• NR_049773.1:n.3039C>T
• NR_049774.1:n.3020C>T

This HGVS expression did not pass validation

Protein change:

S642L

Molecular consequence:

• NM_001267048.2:c.2678C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284352.2:c.2633C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284353.2:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020775.5:c.2939C>T - missense variant - [Sequence Ontology: SO:0001583]