ClinVar

NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)

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: 178588560 (on Assembly GRCh38)
• Chr2: 179453287 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)

Other names:

p.P19414P:CCG>CCA

HGVS:

• NC_000002.12:g.178588560C>T
• NG_011618.3:g.247243G>A
• NG_051363.1:g.70734C>T
• NM_001256850.1:c.58242G>A
• NM_001267550.2:c.63165G>AMANE SELECT
• NM_003319.4:c.35970G>A
• NM_133378.4:c.55461G>A
• NM_133432.3:c.36345G>A
• NM_133437.4:c.36546G>A
• NP_001243779.1:p.Pro19414=
• NP_001254479.1:p.Pro21055=
• NP_001254479.2:p.Pro21055=
• NP_003310.4:p.Pro11990=
• NP_596869.4:p.Pro18487=
• NP_597676.3:p.Pro12115=
• NP_597681.4:p.Pro12182=
• LRG_391t1:c.63165G>A
• LRG_391:g.247243G>A
• LRG_391p1:p.Pro21055=
• NC_000002.11:g.179453287C>T
• NM_001267550.1:c.63165G>A
• NM_133379.3:c.*157025G>A
• NP_596869.4:p.(=)
• c.55461G>A
• p.Pro18487Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs72646852

NCBI 1000 Genomes Browser:

rs72646852

Molecular consequence:

• NM_001256850.1:c.58242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.63165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.35970G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.55461G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.36345G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.36546G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

10