ClinVar

NM_001111067.4(ACVR1):c.1338G>A (p.Lys446=)

Gene:

ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

• Chr2: 157738497 (on Assembly GRCh38)
• Chr2: 158595009 (on Assembly GRCh37)

Preferred name:

NM_001111067.4(ACVR1):c.1338G>A (p.Lys446=)

HGVS:

• NC_000002.12:g.157738497C>T
• NG_008004.1:g.141615G>A
• NM_001105.5:c.1338G>A
• NM_001111067.4:c.1338G>AMANE SELECT
• NM_001347663.1:c.1338G>A
• NM_001347664.1:c.1338G>A
• NM_001347665.1:c.1338G>A
• NM_001347666.1:c.1338G>A
• NM_001347667.2:c.1338G>A
• NP_001096.1:p.Lys446=
• NP_001104537.1:p.Lys446=
• NP_001334592.1:p.Lys446=
• NP_001334593.1:p.Lys446=
• NP_001334594.1:p.Lys446=
• NP_001334595.1:p.Lys446=
• NP_001334596.1:p.Lys446=
• NC_000002.11:g.158595009C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001105.5:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001111067.4:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347663.1:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347664.1:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347665.1:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347666.1:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347667.2:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]