ClinVar

NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)

Gene:

ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51920826 (on Assembly GRCh38)
• Chr12: 52314610 (on Assembly GRCh37)

Preferred name:

NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)

Other names:

p.A482V:GCG>GTG; NM_000020.3(ACVRL1):c.1445C>T

HGVS:

• NC_000012.12:g.51920826C>T
• NG_009549.1:g.18409C>T
• NM_000020.3:c.1445C>TMANE SELECT
• NM_001077401.2:c.1445C>T
• NP_000011.2:p.Ala482Val
• NP_000011.2:p.Ala482Val
• NP_001070869.1:p.Ala482Val
• LRG_543t1:c.1445C>T
• LRG_543:g.18409C>T
• LRG_543p1:p.Ala482Val
• NC_000012.11:g.52314610C>T
• NM_000020.2:c.1445C>T
• NM_001077401.1:c.1445C>T
• P37023:p.Ala482Val

This HGVS expression did not pass validation

Protein change:

A482V

Links:

UniProtKB: P37023#VAR_026814; dbSNP: rs139142865

NCBI 1000 Genomes Browser:

rs139142865

Molecular consequence:

• NM_000020.3:c.1445C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077401.2:c.1445C>T - missense variant - [Sequence Ontology: SO:0001583]