ClinVar

NM_001385026.1(PEAK1):c.11G>A (p.Cys4Tyr)

Genes:

LOC130057658:ATAC-STARR-seq lymphoblastoid active region 9892 [Gene]
PEAK1:pseudopodium enriched atypical kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.3

Genomic location:

• Chr15: 77181916 (on Assembly GRCh38)
• Chr15: 77474258 (on Assembly GRCh37)

Preferred name:

NM_001385026.1(PEAK1):c.11G>A (p.Cys4Tyr)

HGVS:

• NC_000015.10:g.77181916C>T
• NG_034037.1:g.243189G>A
• NG_034037.2:g.243998G>A
• NG_192079.1:g.181C>T
• NM_001385026.1:c.11G>AMANE SELECT
• NM_001385027.1:c.11G>A
• NM_001387085.1:c.11G>A
• NM_001387086.1:c.11G>A
• NM_024776.5:c.11G>A
• NP_001371955.1:p.Cys4Tyr
• NP_001371956.1:p.Cys4Tyr
• NP_001374014.1:p.Cys4Tyr
• NP_001374015.1:p.Cys4Tyr
• NP_079052.2:p.Cys4Tyr
• NC_000015.9:g.77474258C>T
• NM_024776.3:c.11G>A

This HGVS expression did not pass validation

Protein change:

C4Y

Molecular consequence:

• NM_001385026.1:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385027.1:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387085.1:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387086.1:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024776.5:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]