Canonical Allele Identifier: CA386705891
Community Standard Title: NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110645089G>A , CM000674.2:g.110645089G>A GRCh38
NC_000012.11:g.111082894G>A , CM000674.1:g.111082894G>A GRCh37
NC_000012.10:g.109567277G>A NCBI36
NG_030381.1:g.36063G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.1454G>A (TCTN1) MANE Select NP_001076007.1:p.Trp485Ter
ENST00000397659.9:c.1454G>A (TCTN1) MANE Select ENSP00000380779.4:p.Trp485Ter
NM_001082537.2:c.1454G>A (TCTN1) NP_001076006.1:p.Trp485Ter
NM_001082537.3:c.1454G>A (TCTN1) NP_001076006.1:p.Trp485Ter
NM_001082538.2:c.1454G>A (TCTN1) NP_001076007.1:p.Trp485Ter
NM_001173975.1:c.1286G>A (TCTN1) NP_001167446.1:p.Trp429Ter
NM_001173975.2:c.1286G>A (TCTN1) NP_001167446.1:p.Trp429Ter
NM_001173975.3:c.1286G>A (TCTN1) NP_001167446.1:p.Trp429Ter
NM_001173976.1:c.1127G>A (TCTN1) NP_001167447.1:p.Trp376Ter
NM_001173976.2:c.1127G>A (TCTN1) NP_001167447.1:p.Trp376Ter
NM_001319680.1:c.1307G>A (TCTN1) NP_001306609.1:p.Trp436Ter
NM_001319680.2:c.1307G>A (TCTN1) NP_001306609.1:p.Trp436Ter
NM_001319681.1:c.920G>A (TCTN1) NP_001306610.1:p.Trp307Ter
NM_001319681.2:c.920G>A (TCTN1) NP_001306610.1:p.Trp307Ter
NM_024549.5:c.1412G>A (TCTN1) NP_078825.2:p.Trp471Ter
NM_024549.6:c.1412G>A (TCTN1) NP_078825.2:p.Trp471Ter
NR_135088.1:n.1739G>A (TCTN1)
NR_135088.2:n.1637G>A (TCTN1)
ENST00000377654.4:c.1127G>A (TCTN1) ENSP00000366882.4:p.Trp376Ter
ENST00000377654.5:c.1202G>A (TCTN1) ENSP00000366882.5:p.Trp401Ter
ENST00000397655.7:c.1412G>A (TCTN1) ENSP00000380775.3:p.Trp471Ter
ENST00000397656.8:c.*1087G>A (TCTN1) ENSP00000380776.4:n.*1087G>A
ENST00000397659.8:c.1454G>A (TCTN1) ENSP00000380779.4:p.Trp485Ter
ENST00000460357.1:n.1734G>A (TCTN1)
ENST00000463313.1:n.390G>A (TCTN1)
ENST00000464809.5:c.*1280G>A (TCTN1) ENSP00000435027.1:n.*1280G>A
ENST00000480648.5:c.*730G>A (TCTN1) ENSP00000437196.1:n.*730G>A
ENST00000485445.5:n.434G>A (TCTN1)
ENST00000490514.5:c.*1131G>A (TCTN1) ENSP00000436044.1:n.*1131G>A
ENST00000491068.5:n.382G>A (TCTN1)
ENST00000495659.6:c.*1212G>A (TCTN1) ENSP00000436673.2:n.*1212G>A
ENST00000547461.2:c.195G>A (TCTN1) ENSP00000448188.2:p.Leu65=
ENST00000547461.3:c.*271G>A (TCTN1) ENSP00000448188.3:n.*271G>A
ENST00000548312.5:c.756+5079C>T (HVCN1) ENSP00000449601.1:n.756+5079C>T
ENST00000549123.5:c.-139-2122G>A (TCTN1) ENSP00000450154.1:n.-139-2122G>A
ENST00000549123.6:c.1105-2122G>A (TCTN1) ENSP00000450154.2:n.1105-2122G>A
ENST00000551590.5:c.1454G>A (TCTN1) ENSP00000448735.1:p.Trp485Ter
ENST00000552038.5:n.561G>A (TCTN1)
ENST00000552038.6:n.2120G>A (TCTN1)
ENST00000614115.4:c.1412G>A (TCTN1) ENSP00000484255.1:p.Trp471Ter
ENST00000614115.5:c.1307G>A (TCTN1) ENSP00000484255.2:p.Trp436Ter
ENST00000679617.1:c.*803-1339G>A (TCTN1) ENSP00000506626.1:n.*803-1339G>A
ENST00000679713.1:c.*612-2122G>A (TCTN1) ENSP00000504975.1:n.*612-2122G>A
ENST00000680068.1:c.*941G>A (TCTN1) ENSP00000506300.1:n.*941G>A
ENST00000680445.1:c.844-2122G>A (TCTN1) ENSP00000505462.1:n.844-2122G>A
ENST00000680512.1:c.*904G>A (TCTN1) ENSP00000505935.1:n.*904G>A
ENST00000681395.1:c.*902G>A (TCTN1) ENSP00000505886.1:n.*902G>A
ENST00000681807.1:c.*1114G>A (TCTN1) ENSP00000505236.1:n.*1114G>A
ENST00000681851.1:c.*689G>A (TCTN1) ENSP00000505956.1:n.*689G>A
XM_005253934.2:c.979-2107G>A (TCTN1) XP_005253991.1:n.979-2107G>A
XM_005253934.4:c.979-2107G>A (TCTN1) XP_005253991.1:n.979-2107G>A
XM_005253935.2:c.979-2122G>A (TCTN1) XP_005253992.1:n.979-2122G>A
XM_005253935.4:c.979-2122G>A (TCTN1) XP_005253992.1:n.979-2122G>A
XM_005253936.2:c.920G>A (TCTN1) XP_005253993.1:p.Trp307Ter
XM_006719594.1:c.1286G>A (TCTN1) XP_006719657.1:p.Trp429Ter
XM_006719594.3:c.1286G>A (TCTN1) XP_006719657.1:p.Trp429Ter
XM_006719595.1:c.920G>A (TCTN1) XP_006719658.1:p.Trp307Ter
XM_006719595.3:c.920G>A (TCTN1) XP_006719658.1:p.Trp307Ter
XM_006719596.1:c.920G>A (TCTN1) XP_006719659.1:p.Trp307Ter
XM_006719596.3:c.920G>A (TCTN1) XP_006719659.1:p.Trp307Ter
XM_006719597.2:c.920G>A (TCTN1) XP_006719660.1:p.Trp307Ter
XM_006719597.4:c.920G>A (TCTN1) XP_006719660.1:p.Trp307Ter
XM_006719598.1:c.920G>A (TCTN1) XP_006719661.1:p.Trp307Ter
XM_006719598.3:c.920G>A (TCTN1) XP_006719661.1:p.Trp307Ter
XM_006719599.1:c.920G>A (TCTN1) XP_006719662.1:p.Trp307Ter
XM_006719599.3:c.920G>A (TCTN1) XP_006719662.1:p.Trp307Ter
XM_006719600.1:c.920G>A (TCTN1) XP_006719663.1:p.Trp307Ter
XM_006719600.3:c.920G>A (TCTN1) XP_006719663.1:p.Trp307Ter
XM_011538733.1:c.1412G>A (TCTN1) XP_011537035.1:p.Trp471Ter
XM_011538733.3:c.1412G>A (TCTN1) XP_011537035.1:p.Trp471Ter
XM_011538734.1:c.1394G>A (TCTN1) XP_011537036.1:p.Trp465Ter
XM_011538734.3:c.1394G>A (TCTN1) XP_011537036.1:p.Trp465Ter
XM_011538735.1:c.1307G>A (TCTN1) XP_011537037.1:p.Trp436Ter
XM_011538735.2:c.1307G>A (TCTN1) XP_011537037.1:p.Trp436Ter
XM_011538736.1:c.1307G>A (TCTN1) XP_011537038.1:p.Trp436Ter
XM_011538737.1:c.1227G>A (TCTN1) XP_011537039.1:p.Leu409=
XM_011538737.3:c.1227G>A (TCTN1) XP_011537039.1:p.Leu409=
XM_011538738.1:c.1101G>A (TCTN1) XP_011537040.1:p.Leu367=
XM_011538738.3:c.1101G>A (TCTN1) XP_011537040.1:p.Leu367=
XM_011538739.1:c.1105-2122G>A (TCTN1) XP_011537041.1:n.1105-2122G>A
XM_017019964.1:c.1139G>A (TCTN1) XP_016875453.1:p.Trp380Ter
XM_017019966.2:c.920G>A (TCTN1) XP_016875455.1:p.Trp307Ter
XM_017019968.2:c.920G>A (TCTN1) XP_016875457.1:p.Trp307Ter
XM_017019969.2:c.878G>A (TCTN1) XP_016875458.1:p.Trp293Ter
XR_243021.2:n.1287G>A (TCTN1)
XR_243021.4:n.1281G>A (TCTN1)
XR_243022.2:n.1161G>A (TCTN1)
XR_243022.4:n.1155G>A (TCTN1)
XR_429116.1:n.1287G>A (TCTN1)
XR_429116.3:n.1281G>A (TCTN1)
XR_944717.1:n.1514G>A (TCTN1)
XR_944717.3:n.1508G>A (TCTN1)