TPM1 splice variants in ExAC


The table below lists the TPM1 splice variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 0 c.639+12delG splice site 0.00032765
2. 63335146 c.114+4T>C splice site 0.00002001
3. 63335149 c.114+7G>A splice site 0.00002223
4. 63336221 c.115-5C>G splice site 0.00000914
5. 63336222 c.115-4C>T splice site 0.00000910
6. 63336223 c.115-3C>T splice site 0.00000906
7. 63349176 c.241-8C>T splice site 0.00000824
8. 63349324 c.374+7A>G splice site 0.00001648
9. 63351757 c.375-5T>C splice site 0.00027194
10. 63351759 c.375-3C>T splice site 0.00181288
11. 63351887 c.492+8C>T splice site 0.00000826
12. 63353061 c.493-7G>A splice site 0.00001648
13. 63353144 c.563+6C>T splice site 0.00000831
14. 63353144 c.563+6C>A splice site 0.00000831
15. 63353145 c.563+7G>A splice site 0.00004156
16. 63353901 c.564-11G>A splice site 0.00052790
17. 63353907 c.564-5A>G splice site 0.00002474
18. 63353908 c.564-4T>A splice site 0.00000825
19. 63353991 c.639+4G>A splice site 0.00000833
20. 63354483 c.702+7T>A splice site 0.00000825
21. 63356257 c.773-6T>A splice site 0.00000840
22. 63356258 c.773-5C>T splice site 0.00000840
23. 63356264 c.774C>T splice site 0.00005879
24. 63356344 c.851+3A>G splice site 0.00000935
25. 63356347 c.851+6C>T splice site 0.00026633
26. 63356347 c.851+6C>A splice site 0.00004756
27. 63356348 c.851+7G>A splice site 0.00002858
28. 63358088 c.852-7C>G splice site 0.00003138
29. 63358091 c.852-4G>A splice site 0.00004183
30. 63358095 c.852A>T splice site 0.00001042

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.