ClinVar

NM_000701.8(ATP1A1):c.1088C>A (p.Ala363Asp)

Genes:

LOC129931264:ATAC-STARR-seq lymphoblastoid active region 1561 [Gene]
ATP1A1:ATPase Na+/K+ transporting subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.1

Genomic location:

• Chr1: 116390277 (on Assembly GRCh38)
• Chr1: 116932899 (on Assembly GRCh37)

Preferred name:

NM_000701.8(ATP1A1):c.1088C>A (p.Ala363Asp)

HGVS:

• NC_000001.11:g.116390277C>A
• NG_047036.1:g.23093C>A
• NM_000701.8:c.1088C>AMANE SELECT
• NM_001160233.2:c.1088C>A
• NM_001160234.2:c.995C>A
• NP_000692.2:p.Ala363Asp
• NP_001153705.1:p.Ala363Asp
• NP_001153706.1:p.Ala332Asp
• NC_000001.10:g.116932899C>A
• NM_000701.7:c.1088C>A

This HGVS expression did not pass validation

Protein change:

A332D

Molecular consequence:

• NM_000701.8:c.1088C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160233.2:c.1088C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160234.2:c.995C>A - missense variant - [Sequence Ontology: SO:0001583]