ClinVar

NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)

Genes:

LOC129935183:ATAC-STARR-seq lymphoblastoid active region 16808 [Gene]
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: 178530675 (on Assembly GRCh38)
• Chr2: 179395402 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)

Other names:

p.A32746T:GCA>ACA

HGVS:

• NC_000002.12:g.178530675C>T
• NG_011618.3:g.305128G>A
• NG_051363.1:g.12849C>T
• NM_001256850.1:c.101017G>A
• NM_001267550.2:c.105940G>AMANE SELECT
• NM_003319.4:c.78745G>A
• NM_133378.4:c.98236G>A
• NM_133432.3:c.79120G>A
• NM_133437.4:c.79321G>A
• NP_001243779.1:p.Ala33673Thr
• NP_001254479.2:p.Ala35314Thr
• NP_003310.4:p.Ala26249Thr
• NP_596869.4:p.Ala32746Thr
• NP_597676.3:p.Ala26374Thr
• NP_597681.4:p.Ala26441Thr
• LRG_391t1:c.105940G>A
• LRG_391:g.305128G>A
• NC_000002.11:g.179395402C>T
• NM_001267550.1:c.105940G>A
• NM_133378.4:c.98236G>A

This HGVS expression did not pass validation

Protein change:

A26249T

Links:

dbSNP: rs377171054

NCBI 1000 Genomes Browser:

rs377171054

Molecular consequence:

• NM_001256850.1:c.101017G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.105940G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.78745G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.98236G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.79120G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.79321G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3