Linked Data
ClinVar Variation Id:
461755
dbSNP Id:
rs188817098
ExAC:
12:111080154 G / C
gnomAD v2:
12-111080154-G-C
gnomAD v3:
12-110642349-G-C
gnomAD v4:
12-110642349-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110642349G>C , CM000674.2:g.110642349G>C | GRCh38 |
| NC_000012.11:g.111080154G>C , CM000674.1:g.111080154G>C | GRCh37 |
| NC_000012.10:g.109564537G>C | NCBI36 |
| NG_030381.1:g.33323G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377654.5:c.1104+1200G>C (TCTN1) | ENSP00000366882.5:n.1104+1200G>C | |
| ENST00000397659.9:c.1291G>C (TCTN1) MANE Select | ENSP00000380779.4:p.Val431Leu | |
| ENST00000471804.7:c.1104+1200G>C (TCTN1) | ENSP00000473903.2:n.1104+1200G>C | |
| ENST00000547461.3:c.*148+1832G>C (TCTN1) | ENSP00000448188.3:n.*148+1832G>C | |
| ENST00000549123.6:c.1104+1200G>C (TCTN1) | ENSP00000450154.2:n.1104+1200G>C | |
| ENST00000552038.6:n.1982G>C (TCTN1) | ||
| ENST00000614115.5:c.1190+722G>C (TCTN1) | ENSP00000484255.2:n.1190+722G>C | |
| ENST00000679473.1:c.*823+722G>C (TCTN1) | ENSP00000504983.1:n.*823+722G>C | |
| ENST00000679617.1:c.*802+722G>C (TCTN1) | ENSP00000506626.1:n.*802+722G>C | |
| ENST00000679713.1:c.*611+1832G>C (TCTN1) | ENSP00000504975.1:n.*611+1832G>C | |
| ENST00000680068.1:c.*818+1200G>C (TCTN1) | ENSP00000506300.1:n.*818+1200G>C | |
| ENST00000680445.1:c.844-4862G>C (TCTN1) | ENSP00000505462.1:n.844-4862G>C | |
| ENST00000680512.1:c.*694+720G>C (TCTN1) | ENSP00000505935.1:n.*694+720G>C | |
| ENST00000681395.1:c.*692+722G>C (TCTN1) | ENSP00000505886.1:n.*692+722G>C | |
| ENST00000681604.1:c.*1014+722G>C (TCTN1) | ENSP00000505920.1:n.*1014+722G>C | |
| ENST00000681807.1:c.*904+722G>C (TCTN1) | ENSP00000505236.1:n.*904+722G>C | |
| ENST00000681851.1:c.*479+722G>C (TCTN1) | ENSP00000505956.1:n.*479+722G>C | |
| ENST00000377654.4:c.1008+724G>C (TCTN1) | ENSP00000366882.4:n.1008+724G>C | |
| ENST00000397655.7:c.1249G>C (TCTN1) | ENSP00000380775.3:p.Val417Leu | |
| ENST00000397656.8:c.*924G>C (TCTN1) | ENSP00000380776.4:n.*924G>C | |
| ENST00000397659.8:c.1291G>C (TCTN1) | ENSP00000380779.4:p.Val431Leu | |
| ENST00000463313.1:n.267+1832G>C (TCTN1) | ||
| ENST00000464809.5:c.*1157+1200G>C (TCTN1) | ENSP00000435027.1:n.*1157+1200G>C | |
| ENST00000480648.5:c.*567G>C (TCTN1) | ENSP00000437196.1:n.*567G>C | |
| ENST00000490514.5:c.*1014+722G>C (TCTN1) | ENSP00000436044.1:n.*1014+722G>C | |
| ENST00000495659.6:c.*1049G>C (TCTN1) | ENSP00000436673.2:n.*1049G>C | |
| ENST00000547461.2:c.72+1832G>C (TCTN1) | ENSP00000448188.2:n.72+1832G>C | |
| ENST00000548312.5:c.756+7819C>G (HVCN1) | ENSP00000449601.1:n.756+7819C>G | |
| ENST00000549123.5:c.-140+1200G>C (TCTN1) | ENSP00000450154.1:n.-140+1200G>C | |
| ENST00000551590.5:c.1291G>C (TCTN1) | ENSP00000448735.1:p.Val431Leu | |
| ENST00000552038.5:n.398G>C (TCTN1) | ||
| ENST00000614115.4:c.1249G>C (TCTN1) | ENSP00000484255.1:p.Val417Leu | |
| NM_001082537.2:c.1291G>C (TCTN1) | NP_001076006.1:p.Val431Leu | |
| NM_001082538.2:c.1291G>C (TCTN1) | NP_001076007.1:p.Val431Leu | |
| NM_001173975.1:c.1123G>C (TCTN1) | NP_001167446.1:p.Val375Leu | |
| NM_001173976.1:c.1010+722G>C (TCTN1) | NP_001167447.1:n.1010+722G>C | |
| NM_024549.5:c.1249G>C (TCTN1) | NP_078825.2:p.Val417Leu | |
| XM_005253934.2:c.978+1832G>C (TCTN1) | XP_005253991.1:n.978+1832G>C | |
| XM_005253935.2:c.978+1832G>C (TCTN1) | XP_005253992.1:n.978+1832G>C | |
| XM_005253936.2:c.757G>C (TCTN1) | XP_005253993.1:p.Val253Leu | |
| XM_006719594.1:c.1123G>C (TCTN1) | XP_006719657.1:p.Val375Leu | |
| XM_006719595.1:c.757G>C (TCTN1) | XP_006719658.1:p.Val253Leu | |
| XM_006719596.1:c.757G>C (TCTN1) | XP_006719659.1:p.Val253Leu | |
| XM_006719597.2:c.757G>C (TCTN1) | XP_006719660.1:p.Val253Leu | |
| XM_006719598.1:c.757G>C (TCTN1) | XP_006719661.1:p.Val253Leu | |
| XM_006719599.1:c.757G>C (TCTN1) | XP_006719662.1:p.Val253Leu | |
| XM_006719600.1:c.757G>C (TCTN1) | XP_006719663.1:p.Val253Leu | |
| XM_011538733.1:c.1249G>C (TCTN1) | XP_011537035.1:p.Val417Leu | |
| XM_011538734.1:c.1231G>C (TCTN1) | XP_011537036.1:p.Val411Leu | |
| XM_011538735.1:c.1190+722G>C (TCTN1) | XP_011537037.1:n.1190+722G>C | |
| XM_011538736.1:c.1190+722G>C (TCTN1) | XP_011537038.1:n.1190+722G>C | |
| XM_011538737.1:c.1104+1200G>C (TCTN1) | XP_011537039.1:n.1104+1200G>C | |
| XM_011538738.1:c.978+1832G>C (TCTN1) | XP_011537040.1:n.978+1832G>C | |
| XM_011538739.1:c.1104+1200G>C (TCTN1) | XP_011537041.1:n.1104+1200G>C | |
| XR_243021.2:n.1164+1200G>C (TCTN1) | ||
| XR_243022.2:n.1038+1832G>C (TCTN1) | ||
| XR_429116.1:n.1164+1200G>C (TCTN1) | ||
| XR_944717.1:n.1351G>C (TCTN1) | ||
| NM_001173975.2:c.1123G>C (TCTN1) | NP_001167446.1:p.Val375Leu | |
| NM_001319680.1:c.1190+722G>C (TCTN1) | NP_001306609.1:n.1190+722G>C | |
| NM_001319681.1:c.757G>C (TCTN1) | NP_001306610.1:p.Val253Leu | |
| NR_135088.1:n.1616+1200G>C (TCTN1) | ||
| XM_005253934.4:c.978+1832G>C (TCTN1) | XP_005253991.1:n.978+1832G>C | |
| XM_005253935.4:c.978+1832G>C (TCTN1) | XP_005253992.1:n.978+1832G>C | |
| XM_006719594.3:c.1123G>C (TCTN1) | XP_006719657.1:p.Val375Leu | |
| XM_006719595.3:c.757G>C (TCTN1) | XP_006719658.1:p.Val253Leu | |
| XM_006719596.3:c.757G>C (TCTN1) | XP_006719659.1:p.Val253Leu | |
| XM_006719597.4:c.757G>C (TCTN1) | XP_006719660.1:p.Val253Leu | |
| XM_006719598.3:c.757G>C (TCTN1) | XP_006719661.1:p.Val253Leu | |
| XM_006719599.3:c.757G>C (TCTN1) | XP_006719662.1:p.Val253Leu | |
| XM_006719600.3:c.757G>C (TCTN1) | XP_006719663.1:p.Val253Leu | |
| XM_011538733.3:c.1249G>C (TCTN1) | XP_011537035.1:p.Val417Leu | |
| XM_011538734.3:c.1231G>C (TCTN1) | XP_011537036.1:p.Val411Leu | |
| XM_011538735.2:c.1190+722G>C (TCTN1) | XP_011537037.1:n.1190+722G>C | |
| XM_011538737.3:c.1104+1200G>C (TCTN1) | XP_011537039.1:n.1104+1200G>C | |
| XM_011538738.3:c.978+1832G>C (TCTN1) | XP_011537040.1:n.978+1832G>C | |
| XM_017019964.1:c.1022+722G>C (TCTN1) | XP_016875453.1:n.1022+722G>C | |
| XM_017019966.2:c.757G>C (TCTN1) | XP_016875455.1:p.Val253Leu | |
| XM_017019968.2:c.757G>C (TCTN1) | XP_016875457.1:p.Val253Leu | |
| XM_017019969.2:c.715G>C (TCTN1) | XP_016875458.1:p.Val239Leu | |
| XR_243021.4:n.1158+1200G>C (TCTN1) | ||
| XR_243022.4:n.1032+1832G>C (TCTN1) | ||
| XR_429116.3:n.1158+1200G>C (TCTN1) | ||
| XR_944717.3:n.1345G>C (TCTN1) | ||
| NM_001082537.3:c.1291G>C (TCTN1) | NP_001076006.1:p.Val431Leu | |
| NM_001082538.3:c.1291G>C (TCTN1) MANE Select | NP_001076007.1:p.Val431Leu | |
| NM_001173975.3:c.1123G>C (TCTN1) | NP_001167446.1:p.Val375Leu | |
| NM_001173976.2:c.1010+722G>C (TCTN1) | NP_001167447.1:n.1010+722G>C | |
| NM_001319680.2:c.1190+722G>C (TCTN1) | NP_001306609.1:n.1190+722G>C | |
| NM_001319681.2:c.757G>C (TCTN1) | NP_001306610.1:p.Val253Leu | |
| NM_024549.6:c.1249G>C (TCTN1) | NP_078825.2:p.Val417Leu | |
| NR_135088.2:n.1514+1200G>C (TCTN1) |