ClinVar

NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)

Gene:

AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.33

Genomic location:

• Chr14: 104780214 (on Assembly GRCh38)
• Chr14: 105246551 (on Assembly GRCh37)

Preferred name:

NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)

HGVS:

• NC_000014.9:g.104780214C>T
• NG_012188.1:g.20531G>A
• NM_001014431.2:c.49G>A
• NM_001014432.2:c.49G>A
• NM_001382430.1:c.49G>AMANE SELECT
• NM_001382431.1:c.49G>A
• NM_001382432.1:c.49G>A
• NM_001382433.1:c.49G>A
• NM_005163.2:c.49G>A
• NP_001014431.1:p.Glu17Lys
• NP_001014432.1:p.Glu17Lys
• NP_001369359.1:p.Glu17Lys
• NP_001369360.1:p.Glu17Lys
• NP_001369361.1:p.Glu17Lys
• NP_001369362.1:p.Glu17Lys
• NP_005154.2:p.Glu17Lys
• LRG_721t2:c.49G>A
• LRG_721:g.20531G>A
• LRG_721p2:p.Glu17Lys
• NC_000014.8:g.105246551C>T
• NM_001382430.1:c.49G>A
• P31749:p.Glu17Lys

This HGVS expression did not pass validation

Protein change:

E17K; GLU17LYS

Links:

UniProtKB: P31749#VAR_055422; OMIM: 164730.0001; dbSNP: rs121434592

NCBI 1000 Genomes Browser:

rs121434592

Molecular consequence:

• NM_001014431.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001014432.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382430.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382431.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382432.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382433.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005163.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]