ClinVar

NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)

Genes:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 15715261 (on Assembly GRCh38)
• Chr16: 15809118 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)

HGVS:

• NC_000016.10:g.15715261G>A
• NG_009299.1:g.146770C>T
• NG_021210.1:g.76995G>A
• NM_001040113.2:c.5537C>T
• NM_001040114.2:c.5537C>T
• NM_001143979.2:c.948-8930G>A
• NM_002474.3:c.5516C>TMANE SELECT
• NM_017668.3:c.948-8930G>AMANE SELECT
• NM_022844.3:c.5516C>T
• NP_001035202.1:p.Ala1846Val
• NP_001035203.1:p.Ala1846Val
• NP_002465.1:p.Ala1839Val
• NP_074035.1:p.Ala1839Val
• LRG_1401t1:c.5516C>T
• LRG_1401t2:c.5537C>T
• LRG_1401:g.146770C>T
• LRG_1401p1:p.Ala1839Val
• LRG_1401p2:p.Ala1846Val
• NC_000016.9:g.15809118G>A
• NM_001040113.1:c.5537C>T
• NM_001143979.1:c.948-8930G>A
• NM_002474.2:c.5516C>T

This HGVS expression did not pass validation

Protein change:

A1839V

Links:

dbSNP: rs112948385

NCBI 1000 Genomes Browser:

rs112948385

Molecular consequence:

• NM_001143979.2:c.948-8930G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_017668.3:c.948-8930G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040113.2:c.5537C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040114.2:c.5537C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002474.3:c.5516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022844.3:c.5516C>T - missense variant - [Sequence Ontology: SO:0001583]