ClinVar

NM_006251.6(PRKAA1):c.1438G>A (p.Glu480Lys)

Gene:

PRKAA1:protein kinase AMP-activated catalytic subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.1

Genomic location:

• Chr5: 40763020 (on Assembly GRCh38)
• Chr5: 40763122 (on Assembly GRCh37)

Preferred name:

NM_006251.6(PRKAA1):c.1438G>A (p.Glu480Lys)

HGVS:

• NC_000005.10:g.40763020C>T
• NM_001355028.2:c.1360G>A
• NM_001355029.2:c.1006G>A
• NM_001355035.2:c.664G>A
• NM_001355036.2:c.664G>A
• NM_001355037.2:c.664G>A
• NM_006251.6:c.1438G>AMANE SELECT
• NM_206907.4:c.1483G>A
• NP_001341957.1:p.Glu454Lys
• NP_001341958.1:p.Glu336Lys
• NP_001341964.1:p.Glu222Lys
• NP_001341965.1:p.Glu222Lys
• NP_001341966.1:p.Glu222Lys
• NP_006242.5:p.Glu480Lys
• NP_996790.3:p.Glu495Lys
• NC_000005.9:g.40763122C>T
• NM_206907.3:c.1483G>A

This HGVS expression did not pass validation

Protein change:

E222K

Molecular consequence:

• NM_001355028.2:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355029.2:c.1006G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355035.2:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355036.2:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355037.2:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006251.6:c.1438G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206907.4:c.1483G>A - missense variant - [Sequence Ontology: SO:0001583]