ClinVar

NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)

Gene:

TPM3:tropomyosin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154173113 (on Assembly GRCh38)
• Chr1: 154145589 (on Assembly GRCh37)

Preferred name:

NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)

HGVS:

• NC_000001.11:g.154173113C>T
• NG_008621.1:g.24021G>A
• NM_001043351.2:c.355G>A
• NM_001043352.2:c.355G>A
• NM_001043353.2:c.355G>A
• NM_001278188.2:c.157G>A
• NM_001278189.2:c.355G>A
• NM_001278190.2:c.355G>A
• NM_001278191.2:c.85G>A
• NM_001349679.2:c.355G>A
• NM_001364679.2:c.466G>A
• NM_001364680.2:c.466G>A
• NM_001364681.2:c.466G>A
• NM_001364682.1:c.466G>A
• NM_001364683.1:c.355G>A
• NM_152263.4:c.466G>AMANE SELECT
• NM_153649.4:c.355G>A
• NP_001036816.1:p.Ala119Thr
• NP_001036817.1:p.Ala119Thr
• NP_001036818.1:p.Ala119Thr
• NP_001265117.1:p.Ala53Thr
• NP_001265118.1:p.Ala119Thr
• NP_001265119.1:p.Ala119Thr
• NP_001265120.1:p.Ala29Thr
• NP_001336608.1:p.Ala119Thr
• NP_001351608.1:p.Ala156Thr
• NP_001351609.1:p.Ala156Thr
• NP_001351610.1:p.Ala156Thr
• NP_001351611.1:p.Ala156Thr
• NP_001351612.1:p.Ala119Thr
• NP_689476.2:p.Ala156Thr
• NP_705935.1:p.Ala119Thr
• LRG_681t1:c.355G>A
• LRG_681t2:c.466G>A
• LRG_681t3:c.355G>A
• LRG_681:g.24021G>A
• LRG_681p1:p.Ala119Thr
• LRG_681p2:p.Ala156Thr
• LRG_681p3:p.Ala119Thr
• NC_000001.10:g.154145589C>T
• NM_152263.2:c.466G>A
• NM_152263.3:c.466G>A
• NR_103461.2:n.454G>A
• p.(Ala156Thr)

This HGVS expression did not pass validation

Protein change:

A119T

Links:

dbSNP: rs199474714

NCBI 1000 Genomes Browser:

rs199474714

Molecular consequence:

• NM_001043351.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001043352.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001043353.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278188.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278189.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278190.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278191.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349679.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364679.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364680.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364681.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364682.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364683.1:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152263.4:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153649.4:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_103461.2:n.454G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]