Canonical Allele Identifier: CA240051
Community Standard Title: NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110647264C>T , CM000674.2:g.110647264C>T GRCh38
NC_000012.11:g.111085069C>T , CM000674.1:g.111085069C>T GRCh37
NC_000012.10:g.109569452C>T NCBI36
NG_030381.1:g.38238C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.1563C>T (TCTN1) MANE Select NP_001076007.1:p.Tyr521=
ENST00000397659.9:c.1563C>T (TCTN1) MANE Select ENSP00000380779.4:p.Tyr521=
NM_001082537.2:c.1548C>T (TCTN1) NP_001076006.1:p.Tyr516=
NM_001082537.3:c.1548C>T (TCTN1) NP_001076006.1:p.Tyr516=
NM_001082538.2:c.1563C>T (TCTN1) NP_001076007.1:p.Tyr521=
NM_001173975.1:c.1380C>T (TCTN1) NP_001167446.1:p.Tyr460=
NM_001173975.2:c.1380C>T (TCTN1) NP_001167446.1:p.Tyr460=
NM_001173975.3:c.1380C>T (TCTN1) NP_001167446.1:p.Tyr460=
NM_001173976.1:c.1236C>T (TCTN1) NP_001167447.1:p.Tyr412=
NM_001173976.2:c.1236C>T (TCTN1) NP_001167447.1:p.Tyr412=
NM_001319680.1:c.1401C>T (TCTN1) NP_001306609.1:p.Tyr467=
NM_001319680.2:c.1401C>T (TCTN1) NP_001306609.1:p.Tyr467=
NM_001319681.1:c.1014C>T (TCTN1) NP_001306610.1:p.Tyr338=
NM_001319681.2:c.1014C>T (TCTN1) NP_001306610.1:p.Tyr338=
NM_024549.5:c.1506C>T (TCTN1) NP_078825.2:p.Tyr502=
NM_024549.6:c.1506C>T (TCTN1) NP_078825.2:p.Tyr502=
NR_135088.1:n.1833C>T (TCTN1)
NR_135088.2:n.1731C>T (TCTN1)
ENST00000377654.4:c.1236C>T (TCTN1) ENSP00000366882.4:p.Tyr412=
ENST00000377654.5:c.1296C>T (TCTN1) ENSP00000366882.5:p.Tyr432=
ENST00000397655.7:c.1506C>T (TCTN1) ENSP00000380775.3:p.Tyr502=
ENST00000397656.8:c.*1181C>T (TCTN1) ENSP00000380776.4:n.*1181C>T
ENST00000397659.8:c.1563C>T (TCTN1) ENSP00000380779.4:p.Tyr521=
ENST00000460357.1:n.3909C>T (TCTN1)
ENST00000464809.5:c.*1374C>T (TCTN1) ENSP00000435027.1:n.*1374C>T
ENST00000480648.5:c.*824C>T (TCTN1) ENSP00000437196.1:n.*824C>T
ENST00000485445.5:n.528C>T (TCTN1)
ENST00000490514.5:c.*1240C>T (TCTN1) ENSP00000436044.1:n.*1240C>T
ENST00000491068.5:n.476C>T (TCTN1)
ENST00000495659.6:c.*1306C>T (TCTN1) ENSP00000436673.2:n.*1306C>T
ENST00000547461.2:c.289C>T (TCTN1) ENSP00000448188.2:n.289C>T
ENST00000547461.3:c.*365C>T (TCTN1) ENSP00000448188.3:n.*365C>T
ENST00000548312.5:c.756+2904G>A (HVCN1) ENSP00000449601.1:n.756+2904G>A
ENST00000549123.5:c.-86C>T (TCTN1) ENSP00000450154.1:n.-86C>T
ENST00000549123.6:c.1158C>T (TCTN1) ENSP00000450154.2:p.Tyr386=
ENST00000551590.5:c.1548C>T (TCTN1) ENSP00000448735.1:p.Tyr516=
ENST00000552038.5:n.655C>T (TCTN1)
ENST00000552038.6:n.2214C>T (TCTN1)
ENST00000614115.4:c.1506C>T (TCTN1) ENSP00000484255.1:p.Tyr502=
ENST00000614115.5:c.1401C>T (TCTN1) ENSP00000484255.2:p.Tyr467=
ENST00000679617.1:c.*1163C>T (TCTN1) ENSP00000506626.1:n.*1163C>T
ENST00000679713.1:c.*665C>T (TCTN1) ENSP00000504975.1:n.*665C>T
ENST00000680068.1:c.*1035C>T (TCTN1) ENSP00000506300.1:n.*1035C>T
ENST00000680445.1:c.897C>T (TCTN1) ENSP00000505462.1:p.Tyr299=
ENST00000680512.1:c.*998C>T (TCTN1) ENSP00000505935.1:n.*998C>T
ENST00000681395.1:c.*1010C>T (TCTN1) ENSP00000505886.1:n.*1010C>T
ENST00000681807.1:c.*1208C>T (TCTN1) ENSP00000505236.1:n.*1208C>T
ENST00000681851.1:c.*783C>T (TCTN1) ENSP00000505956.1:n.*783C>T
XM_005253934.2:c.1047C>T (TCTN1) XP_005253991.1:p.Tyr349=
XM_005253934.4:c.1047C>T (TCTN1) XP_005253991.1:p.Tyr349=
XM_005253935.2:c.1032C>T (TCTN1) XP_005253992.1:p.Tyr344=
XM_005253935.4:c.1032C>T (TCTN1) XP_005253992.1:p.Tyr344=
XM_005253936.2:c.1014C>T (TCTN1) XP_005253993.1:p.Tyr338=
XM_006719594.1:c.1395C>T (TCTN1) XP_006719657.1:p.Tyr465=
XM_006719594.3:c.1395C>T (TCTN1) XP_006719657.1:p.Tyr465=
XM_006719595.1:c.1029C>T (TCTN1) XP_006719658.1:p.Tyr343=
XM_006719595.3:c.1029C>T (TCTN1) XP_006719658.1:p.Tyr343=
XM_006719596.1:c.1029C>T (TCTN1) XP_006719659.1:p.Tyr343=
XM_006719596.3:c.1029C>T (TCTN1) XP_006719659.1:p.Tyr343=
XM_006719597.2:c.1029C>T (TCTN1) XP_006719660.1:p.Tyr343=
XM_006719597.4:c.1029C>T (TCTN1) XP_006719660.1:p.Tyr343=
XM_006719598.1:c.1029C>T (TCTN1) XP_006719661.1:p.Tyr343=
XM_006719598.3:c.1029C>T (TCTN1) XP_006719661.1:p.Tyr343=
XM_006719599.1:c.1029C>T (TCTN1) XP_006719662.1:p.Tyr343=
XM_006719599.3:c.1029C>T (TCTN1) XP_006719662.1:p.Tyr343=
XM_006719600.1:c.1029C>T (TCTN1) XP_006719663.1:p.Tyr343=
XM_006719600.3:c.1029C>T (TCTN1) XP_006719663.1:p.Tyr343=
XM_011538733.1:c.1521C>T (TCTN1) XP_011537035.1:p.Tyr507=
XM_011538733.3:c.1521C>T (TCTN1) XP_011537035.1:p.Tyr507=
XM_011538734.1:c.1503C>T (TCTN1) XP_011537036.1:p.Tyr501=
XM_011538734.3:c.1503C>T (TCTN1) XP_011537036.1:p.Tyr501=
XM_011538735.1:c.1416C>T (TCTN1) XP_011537037.1:p.Tyr472=
XM_011538735.2:c.1416C>T (TCTN1) XP_011537037.1:p.Tyr472=
XM_011538736.1:c.1401C>T (TCTN1) XP_011537038.1:p.Tyr467=
XM_011538737.1:c.1335C>T (TCTN1) XP_011537039.1:p.Tyr445=
XM_011538737.3:c.1335C>T (TCTN1) XP_011537039.1:p.Tyr445=
XM_011538738.1:c.1209C>T (TCTN1) XP_011537040.1:p.Tyr403=
XM_011538738.3:c.1209C>T (TCTN1) XP_011537040.1:p.Tyr403=
XM_011538739.1:c.1158C>T (TCTN1) XP_011537041.1:p.Tyr386=
XM_017019964.1:c.1233C>T (TCTN1) XP_016875453.1:p.Tyr411=
XM_017019966.2:c.1029C>T (TCTN1) XP_016875455.1:p.Tyr343=
XM_017019968.2:c.1029C>T (TCTN1) XP_016875457.1:p.Tyr343=
XM_017019969.2:c.987C>T (TCTN1) XP_016875458.1:p.Tyr329=
XR_243021.2:n.1381C>T (TCTN1)
XR_243021.4:n.1375C>T (TCTN1)
XR_243022.2:n.1255C>T (TCTN1)
XR_243022.4:n.1249C>T (TCTN1)
XR_429116.1:n.1396C>T (TCTN1)
XR_429116.3:n.1390C>T (TCTN1)
XR_944717.1:n.1622C>T (TCTN1)
XR_944717.3:n.1616C>T (TCTN1)