Canonical Allele Identifier: CA6786764
Community Standard Title: NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110640419C>T , CM000674.2:g.110640419C>T GRCh38
NC_000012.11:g.111078224C>T , CM000674.1:g.111078224C>T GRCh37
NC_000012.10:g.109562607C>T NCBI36
NG_030381.1:g.31393C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.880C>T (TCTN1) MANE Select NP_001076007.1:p.Leu294=
ENST00000397659.9:c.880C>T (TCTN1) MANE Select ENSP00000380779.4:p.Leu294=
NM_001082537.2:c.880C>T (TCTN1) NP_001076006.1:p.Leu294=
NM_001082537.3:c.880C>T (TCTN1) NP_001076006.1:p.Leu294=
NM_001082538.2:c.880C>T (TCTN1) NP_001076007.1:p.Leu294=
NM_001173975.1:c.712C>T (TCTN1) NP_001167446.1:p.Leu238=
NM_001173975.2:c.712C>T (TCTN1) NP_001167446.1:p.Leu238=
NM_001173975.3:c.712C>T (TCTN1) NP_001167446.1:p.Leu238=
NM_001173976.1:c.700C>T (TCTN1) NP_001167447.1:p.Leu234=
NM_001173976.2:c.700C>T (TCTN1) NP_001167447.1:p.Leu234=
NM_001319680.1:c.880C>T (TCTN1) NP_001306609.1:p.Leu294=
NM_001319680.2:c.880C>T (TCTN1) NP_001306609.1:p.Leu294=
NM_001319681.1:c.346C>T (TCTN1) NP_001306610.1:p.Leu116=
NM_001319681.2:c.346C>T (TCTN1) NP_001306610.1:p.Leu116=
NM_024549.5:c.838C>T (TCTN1) NP_078825.2:p.Leu280=
NM_024549.6:c.838C>T (TCTN1) NP_078825.2:p.Leu280=
NR_135088.1:n.1392C>T (TCTN1)
NR_135088.2:n.1290C>T (TCTN1)
ENST00000377654.4:c.700C>T (TCTN1) ENSP00000366882.4:p.Leu234=
ENST00000377654.5:c.880C>T (TCTN1) ENSP00000366882.5:p.Leu294=
ENST00000397655.7:c.838C>T (TCTN1) ENSP00000380775.3:p.Leu280=
ENST00000397656.8:c.*513C>T (TCTN1) ENSP00000380776.4:n.*513C>T
ENST00000397659.8:c.880C>T (TCTN1) ENSP00000380779.4:p.Leu294=
ENST00000463313.1:n.169C>T (TCTN1)
ENST00000464809.5:c.*933C>T (TCTN1) ENSP00000435027.1:n.*933C>T
ENST00000471804.7:c.880C>T (TCTN1) ENSP00000473903.2:p.Leu294=
ENST00000480648.5:c.*156C>T (TCTN1) ENSP00000437196.1:n.*156C>T
ENST00000482281.6:n.872C>T (TCTN1)
ENST00000490514.5:c.*704C>T (TCTN1) ENSP00000436044.1:n.*704C>T
ENST00000495659.6:c.*638C>T (TCTN1) ENSP00000436673.2:n.*638C>T
ENST00000547461.3:c.*50C>T (TCTN1) ENSP00000448188.3:n.*50C>T
ENST00000548312.5:c.756+9749G>A (HVCN1) ENSP00000449601.1:n.756+9749G>A
ENST00000549123.6:c.880C>T (TCTN1) ENSP00000450154.2:p.Leu294=
ENST00000551555.2:n.550C>T (TCTN1)
ENST00000551590.5:c.880C>T (TCTN1) ENSP00000448735.1:p.Leu294=
ENST00000552038.6:n.950C>T (TCTN1)
ENST00000614115.4:c.838C>T (TCTN1) ENSP00000484255.1:p.Leu280=
ENST00000614115.5:c.880C>T (TCTN1) ENSP00000484255.2:p.Leu294=
ENST00000679473.1:c.*513C>T (TCTN1) ENSP00000504983.1:n.*513C>T
ENST00000679617.1:c.*492C>T (TCTN1) ENSP00000506626.1:n.*492C>T
ENST00000679713.1:c.*513C>T (TCTN1) ENSP00000504975.1:n.*513C>T
ENST00000680068.1:c.*594C>T (TCTN1) ENSP00000506300.1:n.*594C>T
ENST00000680168.1:n.527C>T (TCTN1)
ENST00000680445.1:c.843+3918C>T (TCTN1) ENSP00000505462.1:n.843+3918C>T
ENST00000680512.1:c.*382C>T (TCTN1) ENSP00000505935.1:n.*382C>T
ENST00000681395.1:c.*382C>T (TCTN1) ENSP00000505886.1:n.*382C>T
ENST00000681604.1:c.*704C>T (TCTN1) ENSP00000505920.1:n.*704C>T
ENST00000681807.1:c.*594C>T (TCTN1) ENSP00000505236.1:n.*594C>T
ENST00000681851.1:c.*169C>T (TCTN1) ENSP00000505956.1:n.*169C>T
XM_005253934.2:c.880C>T (TCTN1) XP_005253991.1:p.Leu294=
XM_005253934.4:c.880C>T (TCTN1) XP_005253991.1:p.Leu294=
XM_005253935.2:c.880C>T (TCTN1) XP_005253992.1:p.Leu294=
XM_005253935.4:c.880C>T (TCTN1) XP_005253992.1:p.Leu294=
XM_005253936.2:c.346C>T (TCTN1) XP_005253993.1:p.Leu116=
XM_006719594.1:c.712C>T (TCTN1) XP_006719657.1:p.Leu238=
XM_006719594.3:c.712C>T (TCTN1) XP_006719657.1:p.Leu238=
XM_006719595.1:c.346C>T (TCTN1) XP_006719658.1:p.Leu116=
XM_006719595.3:c.346C>T (TCTN1) XP_006719658.1:p.Leu116=
XM_006719596.1:c.346C>T (TCTN1) XP_006719659.1:p.Leu116=
XM_006719596.3:c.346C>T (TCTN1) XP_006719659.1:p.Leu116=
XM_006719597.2:c.346C>T (TCTN1) XP_006719660.1:p.Leu116=
XM_006719597.4:c.346C>T (TCTN1) XP_006719660.1:p.Leu116=
XM_006719598.1:c.346C>T (TCTN1) XP_006719661.1:p.Leu116=
XM_006719598.3:c.346C>T (TCTN1) XP_006719661.1:p.Leu116=
XM_006719599.1:c.346C>T (TCTN1) XP_006719662.1:p.Leu116=
XM_006719599.3:c.346C>T (TCTN1) XP_006719662.1:p.Leu116=
XM_006719600.1:c.346C>T (TCTN1) XP_006719663.1:p.Leu116=
XM_006719600.3:c.346C>T (TCTN1) XP_006719663.1:p.Leu116=
XM_011538733.1:c.838C>T (TCTN1) XP_011537035.1:p.Leu280=
XM_011538733.3:c.838C>T (TCTN1) XP_011537035.1:p.Leu280=
XM_011538734.1:c.820C>T (TCTN1) XP_011537036.1:p.Leu274=
XM_011538734.3:c.820C>T (TCTN1) XP_011537036.1:p.Leu274=
XM_011538735.1:c.880C>T (TCTN1) XP_011537037.1:p.Leu294=
XM_011538735.2:c.880C>T (TCTN1) XP_011537037.1:p.Leu294=
XM_011538736.1:c.880C>T (TCTN1) XP_011537038.1:p.Leu294=
XM_011538737.1:c.880C>T (TCTN1) XP_011537039.1:p.Leu294=
XM_011538737.3:c.880C>T (TCTN1) XP_011537039.1:p.Leu294=
XM_011538738.1:c.880C>T (TCTN1) XP_011537040.1:p.Leu294=
XM_011538738.3:c.880C>T (TCTN1) XP_011537040.1:p.Leu294=
XM_011538739.1:c.880C>T (TCTN1) XP_011537041.1:p.Leu294=
XM_017019964.1:c.712C>T (TCTN1) XP_016875453.1:p.Leu238=
XM_017019966.2:c.346C>T (TCTN1) XP_016875455.1:p.Leu116=
XM_017019968.2:c.346C>T (TCTN1) XP_016875457.1:p.Leu116=
XM_017019969.2:c.304C>T (TCTN1) XP_016875458.1:p.Leu102=
XR_243021.2:n.940C>T (TCTN1)
XR_243021.4:n.934C>T (TCTN1)
XR_243022.2:n.940C>T (TCTN1)
XR_243022.4:n.934C>T (TCTN1)
XR_429116.1:n.940C>T (TCTN1)
XR_429116.3:n.934C>T (TCTN1)
XR_944717.1:n.940C>T (TCTN1)
XR_944717.3:n.934C>T (TCTN1)