Linked Data
ClinVar Variation Id:
160100
dbSNP Id:
rs199529768
ExAC:
12:111078284 G / A
gnomAD v2:
12-111078284-G-A
gnomAD v3:
12-110640479-G-A
gnomAD v4:
12-110640479-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110640479G>A , CM000674.2:g.110640479G>A | GRCh38 |
| NC_000012.11:g.111078284G>A , CM000674.1:g.111078284G>A | GRCh37 |
| NC_000012.10:g.109562667G>A | NCBI36 |
| NG_030381.1:g.31453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377654.5:c.940G>A (TCTN1) | ENSP00000366882.5:p.Ala314Thr | |
| ENST00000397659.9:c.940G>A (TCTN1) MANE Select | ENSP00000380779.4:p.Ala314Thr | |
| ENST00000471804.7:c.940G>A (TCTN1) | ENSP00000473903.2:p.Ala314Thr | |
| ENST00000547461.3:c.*110G>A (TCTN1) | ENSP00000448188.3:n.*110G>A | |
| ENST00000549123.6:c.940G>A (TCTN1) | ENSP00000450154.2:p.Ala314Thr | |
| ENST00000552038.6:n.1010G>A (TCTN1) | ||
| ENST00000614115.5:c.940G>A (TCTN1) | ENSP00000484255.2:p.Ala314Thr | |
| ENST00000679473.1:c.*573G>A (TCTN1) | ENSP00000504983.1:n.*573G>A | |
| ENST00000679617.1:c.*552G>A (TCTN1) | ENSP00000506626.1:n.*552G>A | |
| ENST00000679713.1:c.*573G>A (TCTN1) | ENSP00000504975.1:n.*573G>A | |
| ENST00000680068.1:c.*654G>A (TCTN1) | ENSP00000506300.1:n.*654G>A | |
| ENST00000680445.1:c.843+3978G>A (TCTN1) | ENSP00000505462.1:n.843+3978G>A | |
| ENST00000680512.1:c.*442G>A (TCTN1) | ENSP00000505935.1:n.*442G>A | |
| ENST00000681395.1:c.*442G>A (TCTN1) | ENSP00000505886.1:n.*442G>A | |
| ENST00000681604.1:c.*764G>A (TCTN1) | ENSP00000505920.1:n.*764G>A | |
| ENST00000681807.1:c.*654G>A (TCTN1) | ENSP00000505236.1:n.*654G>A | |
| ENST00000681851.1:c.*229G>A (TCTN1) | ENSP00000505956.1:n.*229G>A | |
| ENST00000377654.4:c.760G>A (TCTN1) | ENSP00000366882.4:p.Ala254Thr | |
| ENST00000397655.7:c.898G>A (TCTN1) | ENSP00000380775.3:p.Ala300Thr | |
| ENST00000397656.8:c.*573G>A (TCTN1) | ENSP00000380776.4:n.*573G>A | |
| ENST00000397659.8:c.940G>A (TCTN1) | ENSP00000380779.4:p.Ala314Thr | |
| ENST00000463313.1:n.229G>A (TCTN1) | ||
| ENST00000464809.5:c.*993G>A (TCTN1) | ENSP00000435027.1:n.*993G>A | |
| ENST00000480648.5:c.*216G>A (TCTN1) | ENSP00000437196.1:n.*216G>A | |
| ENST00000482281.6:n.932G>A (TCTN1) | ||
| ENST00000490514.5:c.*764G>A (TCTN1) | ENSP00000436044.1:n.*764G>A | |
| ENST00000495659.6:c.*698G>A (TCTN1) | ENSP00000436673.2:n.*698G>A | |
| ENST00000547461.2:c.34G>A (TCTN1) | ENSP00000448188.2:p.Ala12Thr | |
| ENST00000548312.5:c.756+9689C>T (HVCN1) | ENSP00000449601.1:n.756+9689C>T | |
| ENST00000551555.2:n.610G>A (TCTN1) | ||
| ENST00000551590.5:c.940G>A (TCTN1) | ENSP00000448735.1:p.Ala314Thr | |
| ENST00000614115.4:c.898G>A (TCTN1) | ENSP00000484255.1:p.Ala300Thr | |
| NM_001082537.2:c.940G>A (TCTN1) | NP_001076006.1:p.Ala314Thr | |
| NM_001082538.2:c.940G>A (TCTN1) | NP_001076007.1:p.Ala314Thr | |
| NM_001173975.1:c.772G>A (TCTN1) | NP_001167446.1:p.Ala258Thr | |
| NM_001173976.1:c.760G>A (TCTN1) | NP_001167447.1:p.Ala254Thr | |
| NM_024549.5:c.898G>A (TCTN1) | NP_078825.2:p.Ala300Thr | |
| XM_005253934.2:c.940G>A (TCTN1) | XP_005253991.1:p.Ala314Thr | |
| XM_005253935.2:c.940G>A (TCTN1) | XP_005253992.1:p.Ala314Thr | |
| XM_005253936.2:c.406G>A (TCTN1) | XP_005253993.1:p.Ala136Thr | |
| XM_006719594.1:c.772G>A (TCTN1) | XP_006719657.1:p.Ala258Thr | |
| XM_006719595.1:c.406G>A (TCTN1) | XP_006719658.1:p.Ala136Thr | |
| XM_006719596.1:c.406G>A (TCTN1) | XP_006719659.1:p.Ala136Thr | |
| XM_006719597.2:c.406G>A (TCTN1) | XP_006719660.1:p.Ala136Thr | |
| XM_006719598.1:c.406G>A (TCTN1) | XP_006719661.1:p.Ala136Thr | |
| XM_006719599.1:c.406G>A (TCTN1) | XP_006719662.1:p.Ala136Thr | |
| XM_006719600.1:c.406G>A (TCTN1) | XP_006719663.1:p.Ala136Thr | |
| XM_011538733.1:c.898G>A (TCTN1) | XP_011537035.1:p.Ala300Thr | |
| XM_011538734.1:c.880G>A (TCTN1) | XP_011537036.1:p.Ala294Thr | |
| XM_011538735.1:c.940G>A (TCTN1) | XP_011537037.1:p.Ala314Thr | |
| XM_011538736.1:c.940G>A (TCTN1) | XP_011537038.1:p.Ala314Thr | |
| XM_011538737.1:c.940G>A (TCTN1) | XP_011537039.1:p.Ala314Thr | |
| XM_011538738.1:c.940G>A (TCTN1) | XP_011537040.1:p.Ala314Thr | |
| XM_011538739.1:c.940G>A (TCTN1) | XP_011537041.1:p.Ala314Thr | |
| XR_243021.2:n.1000G>A (TCTN1) | ||
| XR_243022.2:n.1000G>A (TCTN1) | ||
| XR_429116.1:n.1000G>A (TCTN1) | ||
| XR_944717.1:n.1000G>A (TCTN1) | ||
| NM_001173975.2:c.772G>A (TCTN1) | NP_001167446.1:p.Ala258Thr | |
| NM_001319680.1:c.940G>A (TCTN1) | NP_001306609.1:p.Ala314Thr | |
| NM_001319681.1:c.406G>A (TCTN1) | NP_001306610.1:p.Ala136Thr | |
| NR_135088.1:n.1452G>A (TCTN1) | ||
| XM_005253934.4:c.940G>A (TCTN1) | XP_005253991.1:p.Ala314Thr | |
| XM_005253935.4:c.940G>A (TCTN1) | XP_005253992.1:p.Ala314Thr | |
| XM_006719594.3:c.772G>A (TCTN1) | XP_006719657.1:p.Ala258Thr | |
| XM_006719595.3:c.406G>A (TCTN1) | XP_006719658.1:p.Ala136Thr | |
| XM_006719596.3:c.406G>A (TCTN1) | XP_006719659.1:p.Ala136Thr | |
| XM_006719597.4:c.406G>A (TCTN1) | XP_006719660.1:p.Ala136Thr | |
| XM_006719598.3:c.406G>A (TCTN1) | XP_006719661.1:p.Ala136Thr | |
| XM_006719599.3:c.406G>A (TCTN1) | XP_006719662.1:p.Ala136Thr | |
| XM_006719600.3:c.406G>A (TCTN1) | XP_006719663.1:p.Ala136Thr | |
| XM_011538733.3:c.898G>A (TCTN1) | XP_011537035.1:p.Ala300Thr | |
| XM_011538734.3:c.880G>A (TCTN1) | XP_011537036.1:p.Ala294Thr | |
| XM_011538735.2:c.940G>A (TCTN1) | XP_011537037.1:p.Ala314Thr | |
| XM_011538737.3:c.940G>A (TCTN1) | XP_011537039.1:p.Ala314Thr | |
| XM_011538738.3:c.940G>A (TCTN1) | XP_011537040.1:p.Ala314Thr | |
| XM_017019964.1:c.772G>A (TCTN1) | XP_016875453.1:p.Ala258Thr | |
| XM_017019966.2:c.406G>A (TCTN1) | XP_016875455.1:p.Ala136Thr | |
| XM_017019968.2:c.406G>A (TCTN1) | XP_016875457.1:p.Ala136Thr | |
| XM_017019969.2:c.364G>A (TCTN1) | XP_016875458.1:p.Ala122Thr | |
| XR_243021.4:n.994G>A (TCTN1) | ||
| XR_243022.4:n.994G>A (TCTN1) | ||
| XR_429116.3:n.994G>A (TCTN1) | ||
| XR_944717.3:n.994G>A (TCTN1) | ||
| NM_001082537.3:c.940G>A (TCTN1) | NP_001076006.1:p.Ala314Thr | |
| NM_001082538.3:c.940G>A (TCTN1) MANE Select | NP_001076007.1:p.Ala314Thr | |
| NM_001173975.3:c.772G>A (TCTN1) | NP_001167446.1:p.Ala258Thr | |
| NM_001173976.2:c.760G>A (TCTN1) | NP_001167447.1:p.Ala254Thr | |
| NM_001319680.2:c.940G>A (TCTN1) | NP_001306609.1:p.Ala314Thr | |
| NM_001319681.2:c.406G>A (TCTN1) | NP_001306610.1:p.Ala136Thr | |
| NM_024549.6:c.898G>A (TCTN1) | NP_078825.2:p.Ala300Thr | |
| NR_135088.2:n.1350G>A (TCTN1) |