Linked Data
ClinVar Variation Id:
221983
dbSNP Id:
rs751962801
ExAC:
12:111078242 C / T
gnomAD v2:
12-111078242-C-T
gnomAD v4:
12-110640437-C-T
PubMed:
PMID:26477546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110640437C>T , CM000674.2:g.110640437C>T | GRCh38 |
| NC_000012.11:g.111078242C>T , CM000674.1:g.111078242C>T | GRCh37 |
| NC_000012.10:g.109562625C>T | NCBI36 |
| NG_030381.1:g.31411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377654.5:c.898C>T (TCTN1) | ENSP00000366882.5:p.Arg300Ter | |
| ENST00000397659.9:c.898C>T (TCTN1) MANE Select | ENSP00000380779.4:p.Arg300Ter | |
| ENST00000471804.7:c.898C>T (TCTN1) | ENSP00000473903.2:p.Arg300Ter | |
| ENST00000547461.3:c.*68C>T (TCTN1) | ENSP00000448188.3:n.*68C>T | |
| ENST00000549123.6:c.898C>T (TCTN1) | ENSP00000450154.2:p.Arg300Ter | |
| ENST00000552038.6:n.968C>T (TCTN1) | ||
| ENST00000614115.5:c.898C>T (TCTN1) | ENSP00000484255.2:p.Arg300Ter | |
| ENST00000679473.1:c.*531C>T (TCTN1) | ENSP00000504983.1:n.*531C>T | |
| ENST00000679617.1:c.*510C>T (TCTN1) | ENSP00000506626.1:n.*510C>T | |
| ENST00000679713.1:c.*531C>T (TCTN1) | ENSP00000504975.1:n.*531C>T | |
| ENST00000680068.1:c.*612C>T (TCTN1) | ENSP00000506300.1:n.*612C>T | |
| ENST00000680445.1:c.843+3936C>T (TCTN1) | ENSP00000505462.1:n.843+3936C>T | |
| ENST00000680512.1:c.*400C>T (TCTN1) | ENSP00000505935.1:n.*400C>T | |
| ENST00000681395.1:c.*400C>T (TCTN1) | ENSP00000505886.1:n.*400C>T | |
| ENST00000681604.1:c.*722C>T (TCTN1) | ENSP00000505920.1:n.*722C>T | |
| ENST00000681807.1:c.*612C>T (TCTN1) | ENSP00000505236.1:n.*612C>T | |
| ENST00000681851.1:c.*187C>T (TCTN1) | ENSP00000505956.1:n.*187C>T | |
| ENST00000377654.4:c.718C>T (TCTN1) | ENSP00000366882.4:p.Arg240Ter | |
| ENST00000397655.7:c.856C>T (TCTN1) | ENSP00000380775.3:p.Arg286Ter | |
| ENST00000397656.8:c.*531C>T (TCTN1) | ENSP00000380776.4:n.*531C>T | |
| ENST00000397659.8:c.898C>T (TCTN1) | ENSP00000380779.4:p.Arg300Ter | |
| ENST00000463313.1:n.187C>T (TCTN1) | ||
| ENST00000464809.5:c.*951C>T (TCTN1) | ENSP00000435027.1:n.*951C>T | |
| ENST00000480648.5:c.*174C>T (TCTN1) | ENSP00000437196.1:n.*174C>T | |
| ENST00000482281.6:n.890C>T (TCTN1) | ||
| ENST00000490514.5:c.*722C>T (TCTN1) | ENSP00000436044.1:n.*722C>T | |
| ENST00000495659.6:c.*656C>T (TCTN1) | ENSP00000436673.2:n.*656C>T | |
| ENST00000548312.5:c.756+9731G>A (HVCN1) | ENSP00000449601.1:n.756+9731G>A | |
| ENST00000551555.2:n.568C>T (TCTN1) | ||
| ENST00000551590.5:c.898C>T (TCTN1) | ENSP00000448735.1:p.Arg300Ter | |
| ENST00000614115.4:c.856C>T (TCTN1) | ENSP00000484255.1:p.Arg286Ter | |
| NM_001082537.2:c.898C>T (TCTN1) | NP_001076006.1:p.Arg300Ter | |
| NM_001082538.2:c.898C>T (TCTN1) | NP_001076007.1:p.Arg300Ter | |
| NM_001173975.1:c.730C>T (TCTN1) | NP_001167446.1:p.Arg244Ter | |
| NM_001173976.1:c.718C>T (TCTN1) | NP_001167447.1:p.Arg240Ter | |
| NM_024549.5:c.856C>T (TCTN1) | NP_078825.2:p.Arg286Ter | |
| XM_005253934.2:c.898C>T (TCTN1) | XP_005253991.1:p.Arg300Ter | |
| XM_005253935.2:c.898C>T (TCTN1) | XP_005253992.1:p.Arg300Ter | |
| XM_005253936.2:c.364C>T (TCTN1) | XP_005253993.1:p.Arg122Ter | |
| XM_006719594.1:c.730C>T (TCTN1) | XP_006719657.1:p.Arg244Ter | |
| XM_006719595.1:c.364C>T (TCTN1) | XP_006719658.1:p.Arg122Ter | |
| XM_006719596.1:c.364C>T (TCTN1) | XP_006719659.1:p.Arg122Ter | |
| XM_006719597.2:c.364C>T (TCTN1) | XP_006719660.1:p.Arg122Ter | |
| XM_006719598.1:c.364C>T (TCTN1) | XP_006719661.1:p.Arg122Ter | |
| XM_006719599.1:c.364C>T (TCTN1) | XP_006719662.1:p.Arg122Ter | |
| XM_006719600.1:c.364C>T (TCTN1) | XP_006719663.1:p.Arg122Ter | |
| XM_011538733.1:c.856C>T (TCTN1) | XP_011537035.1:p.Arg286Ter | |
| XM_011538734.1:c.838C>T (TCTN1) | XP_011537036.1:p.Arg280Ter | |
| XM_011538735.1:c.898C>T (TCTN1) | XP_011537037.1:p.Arg300Ter | |
| XM_011538736.1:c.898C>T (TCTN1) | XP_011537038.1:p.Arg300Ter | |
| XM_011538737.1:c.898C>T (TCTN1) | XP_011537039.1:p.Arg300Ter | |
| XM_011538738.1:c.898C>T (TCTN1) | XP_011537040.1:p.Arg300Ter | |
| XM_011538739.1:c.898C>T (TCTN1) | XP_011537041.1:p.Arg300Ter | |
| XR_243021.2:n.958C>T (TCTN1) | ||
| XR_243022.2:n.958C>T (TCTN1) | ||
| XR_429116.1:n.958C>T (TCTN1) | ||
| XR_944717.1:n.958C>T (TCTN1) | ||
| NM_001173975.2:c.730C>T (TCTN1) | NP_001167446.1:p.Arg244Ter | |
| NM_001319680.1:c.898C>T (TCTN1) | NP_001306609.1:p.Arg300Ter | |
| NM_001319681.1:c.364C>T (TCTN1) | NP_001306610.1:p.Arg122Ter | |
| NR_135088.1:n.1410C>T (TCTN1) | ||
| XM_005253934.4:c.898C>T (TCTN1) | XP_005253991.1:p.Arg300Ter | |
| XM_005253935.4:c.898C>T (TCTN1) | XP_005253992.1:p.Arg300Ter | |
| XM_006719594.3:c.730C>T (TCTN1) | XP_006719657.1:p.Arg244Ter | |
| XM_006719595.3:c.364C>T (TCTN1) | XP_006719658.1:p.Arg122Ter | |
| XM_006719596.3:c.364C>T (TCTN1) | XP_006719659.1:p.Arg122Ter | |
| XM_006719597.4:c.364C>T (TCTN1) | XP_006719660.1:p.Arg122Ter | |
| XM_006719598.3:c.364C>T (TCTN1) | XP_006719661.1:p.Arg122Ter | |
| XM_006719599.3:c.364C>T (TCTN1) | XP_006719662.1:p.Arg122Ter | |
| XM_006719600.3:c.364C>T (TCTN1) | XP_006719663.1:p.Arg122Ter | |
| XM_011538733.3:c.856C>T (TCTN1) | XP_011537035.1:p.Arg286Ter | |
| XM_011538734.3:c.838C>T (TCTN1) | XP_011537036.1:p.Arg280Ter | |
| XM_011538735.2:c.898C>T (TCTN1) | XP_011537037.1:p.Arg300Ter | |
| XM_011538737.3:c.898C>T (TCTN1) | XP_011537039.1:p.Arg300Ter | |
| XM_011538738.3:c.898C>T (TCTN1) | XP_011537040.1:p.Arg300Ter | |
| XM_017019964.1:c.730C>T (TCTN1) | XP_016875453.1:p.Arg244Ter | |
| XM_017019966.2:c.364C>T (TCTN1) | XP_016875455.1:p.Arg122Ter | |
| XM_017019968.2:c.364C>T (TCTN1) | XP_016875457.1:p.Arg122Ter | |
| XM_017019969.2:c.322C>T (TCTN1) | XP_016875458.1:p.Arg108Ter | |
| XR_243021.4:n.952C>T (TCTN1) | ||
| XR_243022.4:n.952C>T (TCTN1) | ||
| XR_429116.3:n.952C>T (TCTN1) | ||
| XR_944717.3:n.952C>T (TCTN1) | ||
| NM_001082537.3:c.898C>T (TCTN1) | NP_001076006.1:p.Arg300Ter | |
| NM_001082538.3:c.898C>T (TCTN1) MANE Select | NP_001076007.1:p.Arg300Ter | |
| NM_001173975.3:c.730C>T (TCTN1) | NP_001167446.1:p.Arg244Ter | |
| NM_001173976.2:c.718C>T (TCTN1) | NP_001167447.1:p.Arg240Ter | |
| NM_001319680.2:c.898C>T (TCTN1) | NP_001306609.1:p.Arg300Ter | |
| NM_001319681.2:c.364C>T (TCTN1) | NP_001306610.1:p.Arg122Ter | |
| NM_024549.6:c.856C>T (TCTN1) | NP_078825.2:p.Arg286Ter | |
| NR_135088.2:n.1308C>T (TCTN1) |