ClinVar

NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178575300 (on Assembly GRCh38)
• Chr2: 179440027 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)

Other names:

p.A21043V:GCG>GTG; p.Ala21970Val

HGVS:

• NC_000002.12:g.178575300G>A
• NG_011618.3:g.260503C>T
• NG_051363.1:g.57474G>A
• NM_001256850.1:c.65909C>T
• NM_001267550.2:c.70832C>TMANE SELECT
• NM_003319.4:c.43637C>T
• NM_133378.4:c.63128C>T
• NM_133432.3:c.44012C>T
• NM_133437.4:c.44213C>T
• NP_001243779.1:p.Ala21970Val
• NP_001254479.1:p.Ala23611Val
• NP_001254479.2:p.Ala23611Val
• NP_003310.4:p.Ala14546Val
• NP_596869.4:p.Ala21043Val
• NP_597676.3:p.Ala14671Val
• NP_597681.4:p.Ala14738Val
• LRG_391t1:c.70832C>T
• LRG_391:g.260503C>T
• LRG_391p1:p.Ala23611Val
• NC_000002.11:g.179440027G>A
• NM_001267550.1:c.70832C>T
• NM_133379.3:c.*170285C>T
• c.63128C>T

This HGVS expression did not pass validation

Protein change:

A14546V

Links:

dbSNP: rs72646891

Molecular consequence:

• NM_001256850.1:c.65909C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.70832C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.43637C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.63128C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.44012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.44213C>T - missense variant - [Sequence Ontology: SO:0001583]