ClinVar

NM_000666.3(ACY1):c.1201G>T (p.Val401Leu)

Genes:

ABHD14A-ACY1:ABHD14A-ACY1 readthrough [Gene - HGNC]
ACY1:aminoacylase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.2

Genomic location:

• Chr3: 51989049 (on Assembly GRCh38)
• Chr3: 52023065 (on Assembly GRCh37)

Preferred name:

NM_000666.3(ACY1):c.1201G>T (p.Val401Leu)

HGVS:

• NC_000003.12:g.51989049G>T
• NG_012036.1:g.10503G>T
• NM_000666.3:c.1201G>TMANE SELECT
• NM_001198895.2:c.1201G>T
• NM_001198896.2:c.985G>T
• NM_001198897.2:c.1006G>T
• NM_001198898.2:c.1096G>T
• NM_001316331.2:c.1471G>T
• NP_000657.1:p.Val401Leu
• NP_001185824.1:p.Val401Leu
• NP_001185825.1:p.Val329Leu
• NP_001185826.1:p.Val336Leu
• NP_001185827.1:p.Val366Leu
• NP_001303260.1:p.Val491Leu
• NC_000003.11:g.52023065G>T
• NM_000666.2:c.1201G>T

This HGVS expression did not pass validation

Protein change:

V329L

Links:

dbSNP: rs1701179354

NCBI 1000 Genomes Browser:

rs1701179354

Molecular consequence:

• NM_000666.3:c.1201G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198895.2:c.1201G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198896.2:c.985G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198897.2:c.1006G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198898.2:c.1096G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316331.2:c.1471G>T - missense variant - [Sequence Ontology: SO:0001583]