ClinVar

NM_022821.4(ELOVL1):c.13G>A (p.Val5Met)

Gene:

ELOVL1:ELOVL fatty acid elongase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 43365597 (on Assembly GRCh38)
• Chr1: 43831268 (on Assembly GRCh37)

Preferred name:

NM_022821.4(ELOVL1):c.13G>A (p.Val5Met)

HGVS:

• NC_000001.11:g.43365597C>T
• NM_001256399.2:c.13G>A
• NM_001256401.2:c.13G>A
• NM_001256402.2:c.-40G>A
• NM_022821.4:c.13G>AMANE SELECT
• NP_001243328.1:p.Val5Met
• NP_001243330.1:p.Val5Met
• NP_073732.1:p.Val5Met
• NC_000001.10:g.43831268C>T
• NM_001256399.1:c.13G>A
• NM_022821.4:c.13G>A
• NR_046117.2:n.124G>A

This HGVS expression did not pass validation

Protein change:

V5M

Molecular consequence:

• NM_001256402.2:c.-40G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001256399.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256401.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022821.4:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046117.2:n.124G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]