ClinVar

NM_002474.3(MYH11):c.1A>G (p.Met1Val)

Gene:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 15838252 (on Assembly GRCh38)
• Chr16: 15932109 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.1A>G (p.Met1Val)

HGVS:

• NC_000016.10:g.15838252T>C
• NG_009299.1:g.23779A>G
• NM_001040113.2:c.1A>G
• NM_001040114.2:c.1A>G
• NM_002474.3:c.1A>GMANE SELECT
• NM_022844.3:c.1A>G
• NP_001035202.1:p.Met1Val
• NP_001035203.1:p.Met1Val
• NP_002465.1:p.Met1Val
• NP_074035.1:p.Met1Val
• LRG_1401t1:c.1A>G
• LRG_1401t2:c.1A>G
• LRG_1401:g.23779A>G
• LRG_1401p1:p.Met1Val
• LRG_1401p2:p.Met1Val
• NC_000016.9:g.15932109T>C
• NM_002474.2:c.1A>G
• p.Met1?

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs1555459260

NCBI 1000 Genomes Browser:

rs1555459260

Molecular consequence:

• NM_001040113.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001040114.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_002474.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_022844.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001040113.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040114.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002474.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_022844.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]