Linked Data
ClinVar Variation Id:
194019
dbSNP Id:
rs201894544
ExAC:
12:111082911 A / T
gnomAD v2:
12-111082911-A-T
gnomAD v3:
12-110645106-A-T
gnomAD v4:
12-110645106-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110645106A>T , CM000674.2:g.110645106A>T | GRCh38 |
| NC_000012.11:g.111082911A>T , CM000674.1:g.111082911A>T | GRCh37 |
| NC_000012.10:g.109567294A>T | NCBI36 |
| NG_030381.1:g.36080A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377654.5:c.1219A>T (TCTN1) | ENSP00000366882.5:p.Ile407Phe | |
| ENST00000397659.9:c.1471A>T (TCTN1) MANE Select | ENSP00000380779.4:p.Ile491Phe | |
| ENST00000547461.3:c.*288A>T (TCTN1) | ENSP00000448188.3:n.*288A>T | |
| ENST00000549123.6:c.1105-2105A>T (TCTN1) | ENSP00000450154.2:n.1105-2105A>T | |
| ENST00000552038.6:n.2137A>T (TCTN1) | ||
| ENST00000614115.5:c.1324A>T (TCTN1) | ENSP00000484255.2:p.Ile442Phe | |
| ENST00000679617.1:c.*803-1322A>T (TCTN1) | ENSP00000506626.1:n.*803-1322A>T | |
| ENST00000679713.1:c.*612-2105A>T (TCTN1) | ENSP00000504975.1:n.*612-2105A>T | |
| ENST00000680068.1:c.*958A>T (TCTN1) | ENSP00000506300.1:n.*958A>T | |
| ENST00000680445.1:c.844-2105A>T (TCTN1) | ENSP00000505462.1:n.844-2105A>T | |
| ENST00000680512.1:c.*921A>T (TCTN1) | ENSP00000505935.1:n.*921A>T | |
| ENST00000681395.1:c.*919A>T (TCTN1) | ENSP00000505886.1:n.*919A>T | |
| ENST00000681807.1:c.*1131A>T (TCTN1) | ENSP00000505236.1:n.*1131A>T | |
| ENST00000681851.1:c.*706A>T (TCTN1) | ENSP00000505956.1:n.*706A>T | |
| ENST00000377654.4:c.1144A>T (TCTN1) | ENSP00000366882.4:p.Ile382Phe | |
| ENST00000397655.7:c.1429A>T (TCTN1) | ENSP00000380775.3:p.Ile477Phe | |
| ENST00000397656.8:c.*1104A>T (TCTN1) | ENSP00000380776.4:n.*1104A>T | |
| ENST00000397659.8:c.1471A>T (TCTN1) | ENSP00000380779.4:p.Ile491Phe | |
| ENST00000460357.1:n.1751A>T (TCTN1) | ||
| ENST00000463313.1:n.407A>T (TCTN1) | ||
| ENST00000464809.5:c.*1297A>T (TCTN1) | ENSP00000435027.1:n.*1297A>T | |
| ENST00000480648.5:c.*747A>T (TCTN1) | ENSP00000437196.1:n.*747A>T | |
| ENST00000485445.5:n.451A>T (TCTN1) | ||
| ENST00000490514.5:c.*1148A>T (TCTN1) | ENSP00000436044.1:n.*1148A>T | |
| ENST00000491068.5:n.399A>T (TCTN1) | ||
| ENST00000495659.6:c.*1229A>T (TCTN1) | ENSP00000436673.2:n.*1229A>T | |
| ENST00000547461.2:c.212A>T (TCTN1) | ENSP00000448188.2:p.His71Leu | |
| ENST00000548312.5:c.756+5062T>A (HVCN1) | ENSP00000449601.1:n.756+5062T>A | |
| ENST00000549123.5:c.-139-2105A>T (TCTN1) | ENSP00000450154.1:n.-139-2105A>T | |
| ENST00000551590.5:c.1471A>T (TCTN1) | ENSP00000448735.1:p.Ile491Phe | |
| ENST00000552038.5:n.578A>T (TCTN1) | ||
| ENST00000614115.4:c.1429A>T (TCTN1) | ENSP00000484255.1:p.Ile477Phe | |
| NM_001082537.2:c.1471A>T (TCTN1) | NP_001076006.1:p.Ile491Phe | |
| NM_001082538.2:c.1471A>T (TCTN1) | NP_001076007.1:p.Ile491Phe | |
| NM_001173975.1:c.1303A>T (TCTN1) | NP_001167446.1:p.Ile435Phe | |
| NM_001173976.1:c.1144A>T (TCTN1) | NP_001167447.1:p.Ile382Phe | |
| NM_024549.5:c.1429A>T (TCTN1) | NP_078825.2:p.Ile477Phe | |
| XM_005253934.2:c.979-2090A>T (TCTN1) | XP_005253991.1:n.979-2090A>T | |
| XM_005253935.2:c.979-2105A>T (TCTN1) | XP_005253992.1:n.979-2105A>T | |
| XM_005253936.2:c.937A>T (TCTN1) | XP_005253993.1:p.Ile313Phe | |
| XM_006719594.1:c.1303A>T (TCTN1) | XP_006719657.1:p.Ile435Phe | |
| XM_006719595.1:c.937A>T (TCTN1) | XP_006719658.1:p.Ile313Phe | |
| XM_006719596.1:c.937A>T (TCTN1) | XP_006719659.1:p.Ile313Phe | |
| XM_006719597.2:c.937A>T (TCTN1) | XP_006719660.1:p.Ile313Phe | |
| XM_006719598.1:c.937A>T (TCTN1) | XP_006719661.1:p.Ile313Phe | |
| XM_006719599.1:c.937A>T (TCTN1) | XP_006719662.1:p.Ile313Phe | |
| XM_006719600.1:c.937A>T (TCTN1) | XP_006719663.1:p.Ile313Phe | |
| XM_011538733.1:c.1429A>T (TCTN1) | XP_011537035.1:p.Ile477Phe | |
| XM_011538734.1:c.1411A>T (TCTN1) | XP_011537036.1:p.Ile471Phe | |
| XM_011538735.1:c.1324A>T (TCTN1) | XP_011537037.1:p.Ile442Phe | |
| XM_011538736.1:c.1324A>T (TCTN1) | XP_011537038.1:p.Ile442Phe | |
| XM_011538737.1:c.1244A>T (TCTN1) | XP_011537039.1:p.His415Leu | |
| XM_011538738.1:c.1118A>T (TCTN1) | XP_011537040.1:p.His373Leu | |
| XM_011538739.1:c.1105-2105A>T (TCTN1) | XP_011537041.1:n.1105-2105A>T | |
| XR_243021.2:n.1304A>T (TCTN1) | ||
| XR_243022.2:n.1178A>T (TCTN1) | ||
| XR_429116.1:n.1304A>T (TCTN1) | ||
| XR_944717.1:n.1531A>T (TCTN1) | ||
| NM_001173975.2:c.1303A>T (TCTN1) | NP_001167446.1:p.Ile435Phe | |
| NM_001319680.1:c.1324A>T (TCTN1) | NP_001306609.1:p.Ile442Phe | |
| NM_001319681.1:c.937A>T (TCTN1) | NP_001306610.1:p.Ile313Phe | |
| NR_135088.1:n.1756A>T (TCTN1) | ||
| XM_005253934.4:c.979-2090A>T (TCTN1) | XP_005253991.1:n.979-2090A>T | |
| XM_005253935.4:c.979-2105A>T (TCTN1) | XP_005253992.1:n.979-2105A>T | |
| XM_006719594.3:c.1303A>T (TCTN1) | XP_006719657.1:p.Ile435Phe | |
| XM_006719595.3:c.937A>T (TCTN1) | XP_006719658.1:p.Ile313Phe | |
| XM_006719596.3:c.937A>T (TCTN1) | XP_006719659.1:p.Ile313Phe | |
| XM_006719597.4:c.937A>T (TCTN1) | XP_006719660.1:p.Ile313Phe | |
| XM_006719598.3:c.937A>T (TCTN1) | XP_006719661.1:p.Ile313Phe | |
| XM_006719599.3:c.937A>T (TCTN1) | XP_006719662.1:p.Ile313Phe | |
| XM_006719600.3:c.937A>T (TCTN1) | XP_006719663.1:p.Ile313Phe | |
| XM_011538733.3:c.1429A>T (TCTN1) | XP_011537035.1:p.Ile477Phe | |
| XM_011538734.3:c.1411A>T (TCTN1) | XP_011537036.1:p.Ile471Phe | |
| XM_011538735.2:c.1324A>T (TCTN1) | XP_011537037.1:p.Ile442Phe | |
| XM_011538737.3:c.1244A>T (TCTN1) | XP_011537039.1:p.His415Leu | |
| XM_011538738.3:c.1118A>T (TCTN1) | XP_011537040.1:p.His373Leu | |
| XM_017019964.1:c.1156A>T (TCTN1) | XP_016875453.1:p.Ile386Phe | |
| XM_017019966.2:c.937A>T (TCTN1) | XP_016875455.1:p.Ile313Phe | |
| XM_017019968.2:c.937A>T (TCTN1) | XP_016875457.1:p.Ile313Phe | |
| XM_017019969.2:c.895A>T (TCTN1) | XP_016875458.1:p.Ile299Phe | |
| XR_243021.4:n.1298A>T (TCTN1) | ||
| XR_243022.4:n.1172A>T (TCTN1) | ||
| XR_429116.3:n.1298A>T (TCTN1) | ||
| XR_944717.3:n.1525A>T (TCTN1) | ||
| NM_001082537.3:c.1471A>T (TCTN1) | NP_001076006.1:p.Ile491Phe | |
| NM_001082538.3:c.1471A>T (TCTN1) MANE Select | NP_001076007.1:p.Ile491Phe | |
| NM_001173975.3:c.1303A>T (TCTN1) | NP_001167446.1:p.Ile435Phe | |
| NM_001173976.2:c.1144A>T (TCTN1) | NP_001167447.1:p.Ile382Phe | |
| NM_001319680.2:c.1324A>T (TCTN1) | NP_001306609.1:p.Ile442Phe | |
| NM_001319681.2:c.937A>T (TCTN1) | NP_001306610.1:p.Ile313Phe | |
| NM_024549.6:c.1429A>T (TCTN1) | NP_078825.2:p.Ile477Phe | |
| NR_135088.2:n.1654A>T (TCTN1) |