Canonical Allele Identifier: CA239797
Community Standard Title: NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110645045C>T , CM000674.2:g.110645045C>T GRCh38
NC_000012.11:g.111082850C>T , CM000674.1:g.111082850C>T GRCh37
NC_000012.10:g.109567233C>T NCBI36
NG_030381.1:g.36019C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.1410C>T (TCTN1) MANE Select NP_001076007.1:p.Tyr470=
ENST00000397659.9:c.1410C>T (TCTN1) MANE Select ENSP00000380779.4:p.Tyr470=
NM_001082537.2:c.1410C>T (TCTN1) NP_001076006.1:p.Tyr470=
NM_001082537.3:c.1410C>T (TCTN1) NP_001076006.1:p.Tyr470=
NM_001082538.2:c.1410C>T (TCTN1) NP_001076007.1:p.Tyr470=
NM_001173975.1:c.1242C>T (TCTN1) NP_001167446.1:p.Tyr414=
NM_001173975.2:c.1242C>T (TCTN1) NP_001167446.1:p.Tyr414=
NM_001173975.3:c.1242C>T (TCTN1) NP_001167446.1:p.Tyr414=
NM_001173976.1:c.1083C>T (TCTN1) NP_001167447.1:p.Tyr361=
NM_001173976.2:c.1083C>T (TCTN1) NP_001167447.1:p.Tyr361=
NM_001319680.1:c.1263C>T (TCTN1) NP_001306609.1:p.Tyr421=
NM_001319680.2:c.1263C>T (TCTN1) NP_001306609.1:p.Tyr421=
NM_001319681.1:c.876C>T (TCTN1) NP_001306610.1:p.Tyr292=
NM_001319681.2:c.876C>T (TCTN1) NP_001306610.1:p.Tyr292=
NM_024549.5:c.1368C>T (TCTN1) NP_078825.2:p.Tyr456=
NM_024549.6:c.1368C>T (TCTN1) NP_078825.2:p.Tyr456=
NR_135088.1:n.1695C>T (TCTN1)
NR_135088.2:n.1593C>T (TCTN1)
ENST00000377654.4:c.1083C>T (TCTN1) ENSP00000366882.4:p.Tyr361=
ENST00000377654.5:c.1158C>T (TCTN1) ENSP00000366882.5:p.Tyr386=
ENST00000397655.7:c.1368C>T (TCTN1) ENSP00000380775.3:p.Tyr456=
ENST00000397656.8:c.*1043C>T (TCTN1) ENSP00000380776.4:n.*1043C>T
ENST00000397659.8:c.1410C>T (TCTN1) ENSP00000380779.4:p.Tyr470=
ENST00000460357.1:n.1690C>T (TCTN1)
ENST00000463313.1:n.346C>T (TCTN1)
ENST00000464809.5:c.*1236C>T (TCTN1) ENSP00000435027.1:n.*1236C>T
ENST00000471804.7:c.1183C>T (TCTN1) ENSP00000473903.2:p.Arg395Cys
ENST00000480648.5:c.*686C>T (TCTN1) ENSP00000437196.1:n.*686C>T
ENST00000485445.5:n.390C>T (TCTN1)
ENST00000490514.5:c.*1087C>T (TCTN1) ENSP00000436044.1:n.*1087C>T
ENST00000491068.5:n.338C>T (TCTN1)
ENST00000495659.6:c.*1168C>T (TCTN1) ENSP00000436673.2:n.*1168C>T
ENST00000547461.2:c.151C>T (TCTN1) ENSP00000448188.2:p.Arg51Cys
ENST00000547461.3:c.*227C>T (TCTN1) ENSP00000448188.3:n.*227C>T
ENST00000548312.5:c.756+5123G>A (HVCN1) ENSP00000449601.1:n.756+5123G>A
ENST00000549123.5:c.-139-2166C>T (TCTN1) ENSP00000450154.1:n.-139-2166C>T
ENST00000549123.6:c.1105-2166C>T (TCTN1) ENSP00000450154.2:n.1105-2166C>T
ENST00000551590.5:c.1410C>T (TCTN1) ENSP00000448735.1:p.Tyr470=
ENST00000552038.5:n.517C>T (TCTN1)
ENST00000552038.6:n.2076C>T (TCTN1)
ENST00000614115.4:c.1368C>T (TCTN1) ENSP00000484255.1:p.Tyr456=
ENST00000614115.5:c.1263C>T (TCTN1) ENSP00000484255.2:p.Tyr421=
ENST00000679617.1:c.*803-1383C>T (TCTN1) ENSP00000506626.1:n.*803-1383C>T
ENST00000679713.1:c.*612-2166C>T (TCTN1) ENSP00000504975.1:n.*612-2166C>T
ENST00000680068.1:c.*897C>T (TCTN1) ENSP00000506300.1:n.*897C>T
ENST00000680445.1:c.844-2166C>T (TCTN1) ENSP00000505462.1:n.844-2166C>T
ENST00000680512.1:c.*860C>T (TCTN1) ENSP00000505935.1:n.*860C>T
ENST00000681395.1:c.*858C>T (TCTN1) ENSP00000505886.1:n.*858C>T
ENST00000681807.1:c.*1070C>T (TCTN1) ENSP00000505236.1:n.*1070C>T
ENST00000681851.1:c.*645C>T (TCTN1) ENSP00000505956.1:n.*645C>T
XM_005253934.2:c.979-2151C>T (TCTN1) XP_005253991.1:n.979-2151C>T
XM_005253934.4:c.979-2151C>T (TCTN1) XP_005253991.1:n.979-2151C>T
XM_005253935.2:c.979-2166C>T (TCTN1) XP_005253992.1:n.979-2166C>T
XM_005253935.4:c.979-2166C>T (TCTN1) XP_005253992.1:n.979-2166C>T
XM_005253936.2:c.876C>T (TCTN1) XP_005253993.1:p.Tyr292=
XM_006719594.1:c.1242C>T (TCTN1) XP_006719657.1:p.Tyr414=
XM_006719594.3:c.1242C>T (TCTN1) XP_006719657.1:p.Tyr414=
XM_006719595.1:c.876C>T (TCTN1) XP_006719658.1:p.Tyr292=
XM_006719595.3:c.876C>T (TCTN1) XP_006719658.1:p.Tyr292=
XM_006719596.1:c.876C>T (TCTN1) XP_006719659.1:p.Tyr292=
XM_006719596.3:c.876C>T (TCTN1) XP_006719659.1:p.Tyr292=
XM_006719597.2:c.876C>T (TCTN1) XP_006719660.1:p.Tyr292=
XM_006719597.4:c.876C>T (TCTN1) XP_006719660.1:p.Tyr292=
XM_006719598.1:c.876C>T (TCTN1) XP_006719661.1:p.Tyr292=
XM_006719598.3:c.876C>T (TCTN1) XP_006719661.1:p.Tyr292=
XM_006719599.1:c.876C>T (TCTN1) XP_006719662.1:p.Tyr292=
XM_006719599.3:c.876C>T (TCTN1) XP_006719662.1:p.Tyr292=
XM_006719600.1:c.876C>T (TCTN1) XP_006719663.1:p.Tyr292=
XM_006719600.3:c.876C>T (TCTN1) XP_006719663.1:p.Tyr292=
XM_011538733.1:c.1368C>T (TCTN1) XP_011537035.1:p.Tyr456=
XM_011538733.3:c.1368C>T (TCTN1) XP_011537035.1:p.Tyr456=
XM_011538734.1:c.1350C>T (TCTN1) XP_011537036.1:p.Tyr450=
XM_011538734.3:c.1350C>T (TCTN1) XP_011537036.1:p.Tyr450=
XM_011538735.1:c.1263C>T (TCTN1) XP_011537037.1:p.Tyr421=
XM_011538735.2:c.1263C>T (TCTN1) XP_011537037.1:p.Tyr421=
XM_011538736.1:c.1263C>T (TCTN1) XP_011537038.1:p.Tyr421=
XM_011538737.1:c.1183C>T (TCTN1) XP_011537039.1:p.Arg395Cys
XM_011538737.3:c.1183C>T (TCTN1) XP_011537039.1:p.Arg395Cys
XM_011538738.1:c.1057C>T (TCTN1) XP_011537040.1:p.Arg353Cys
XM_011538738.3:c.1057C>T (TCTN1) XP_011537040.1:p.Arg353Cys
XM_011538739.1:c.1105-2166C>T (TCTN1) XP_011537041.1:n.1105-2166C>T
XM_017019964.1:c.1095C>T (TCTN1) XP_016875453.1:p.Tyr365=
XM_017019966.2:c.876C>T (TCTN1) XP_016875455.1:p.Tyr292=
XM_017019968.2:c.876C>T (TCTN1) XP_016875457.1:p.Tyr292=
XM_017019969.2:c.834C>T (TCTN1) XP_016875458.1:p.Tyr278=
XR_243021.2:n.1243C>T (TCTN1)
XR_243021.4:n.1237C>T (TCTN1)
XR_243022.2:n.1117C>T (TCTN1)
XR_243022.4:n.1111C>T (TCTN1)
XR_429116.1:n.1243C>T (TCTN1)
XR_429116.3:n.1237C>T (TCTN1)
XR_944717.1:n.1470C>T (TCTN1)
XR_944717.3:n.1464C>T (TCTN1)