ClinVar

NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)

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: 178574131 (on Assembly GRCh38)
• Chr2: 179438858 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)

Other names:

p.A21433T:GCC>ACC

HGVS:

• NC_000002.12:g.178574131C>T
• NG_011618.3:g.261672G>A
• NG_051363.1:g.56305C>T
• NM_001256850.1:c.67078G>A
• NM_001267550.2:c.72001G>AMANE SELECT
• NM_003319.4:c.44806G>A
• NM_133378.4:c.64297G>A
• NM_133432.3:c.45181G>A
• NM_133437.4:c.45382G>A
• NP_001243779.1:p.Ala22360Thr
• NP_001254479.1:p.Ala24001Thr
• NP_001254479.2:p.Ala24001Thr
• NP_003310.4:p.Ala14936Thr
• NP_596869.4:p.Ala21433Thr
• NP_597676.3:p.Ala15061Thr
• NP_597681.4:p.Ala15128Thr
• LRG_391t1:c.72001G>A
• LRG_391:g.261672G>A
• LRG_391p1:p.Ala24001Thr
• NC_000002.11:g.179438858C>T
• NM_001267550.1:c.72001G>A
• NM_003319.4:c.44806G>A
• NM_133379.3:c.*171454G>A

This HGVS expression did not pass validation

Protein change:

A14936T

Links:

dbSNP: rs180828370

NCBI 1000 Genomes Browser:

rs180828370

Molecular consequence:

• NM_001256850.1:c.67078G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.72001G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.44806G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.64297G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.45181G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.45382G>A - missense variant - [Sequence Ontology: SO:0001583]