ClinVar

NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)

Gene:

ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108147315 (on Assembly GRCh38)
• Chr11: 108018042 (on Assembly GRCh37)

Preferred name:

NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)

HGVS:

• NC_000011.10:g.108147315G>A
• NG_009888.2:g.35611G>A
• NM_000019.4:c.1209G>AMANE SELECT
• NM_001386677.1:c.1230G>A
• NM_001386678.1:c.894G>A
• NM_001386679.1:c.912G>A
• NM_001386681.1:c.939G>A
• NM_001386682.1:c.939G>A
• NM_001386685.1:c.939G>A
• NM_001386686.1:c.939G>A
• NM_001386687.1:c.939G>A
• NM_001386688.1:c.939G>A
• NM_001386689.1:c.939G>A
• NM_001386690.1:c.939G>A
• NM_001386691.1:c.939G>A
• NP_000010.1:p.Lys403=
• NP_001373606.1:p.Lys410=
• NP_001373607.1:p.Lys298=
• NP_001373608.1:p.Lys304=
• NP_001373610.1:p.Lys313=
• NP_001373611.1:p.Lys313=
• NP_001373614.1:p.Lys313=
• NP_001373615.1:p.Lys313=
• NP_001373616.1:p.Lys313=
• NP_001373617.1:p.Lys313=
• NP_001373618.1:p.Lys313=
• NP_001373619.1:p.Lys313=
• NP_001373620.1:p.Lys313=
• LRG_1400t1:c.1209G>A
• LRG_1400:g.35611G>A
• LRG_1400p1:p.Lys403=
• NC_000011.9:g.108018042G>A
• NR_170162.1:n.1184G>A
• NR_170163.1:n.1242G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_170162.1:n.1184G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_170163.1:n.1242G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000019.4:c.1209G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386677.1:c.1230G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386678.1:c.894G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386679.1:c.912G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386681.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386682.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386685.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386686.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386687.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386688.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386689.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386690.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386691.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]