Canonical Allele Identifier: CA6786776

Gene: TCTN1 HVCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110640495T>G , CM000674.2:g.110640495T>G	GRCh38
NC_000012.11:g.111078300T>G , CM000674.1:g.111078300T>G	GRCh37
NC_000012.10:g.109562683T>G	NCBI36
NG_030381.1:g.31469T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001082538.3:c.956T>G (TCTN1) MANE Select	NP_001076007.1:p.Leu319Arg
ENST00000397659.9:c.956T>G (TCTN1) MANE Select	ENSP00000380779.4:p.Leu319Arg
NM_001082537.2:c.956T>G (TCTN1)	NP_001076006.1:p.Leu319Arg
NM_001082537.3:c.956T>G (TCTN1)	NP_001076006.1:p.Leu319Arg
NM_001082538.2:c.956T>G (TCTN1)	NP_001076007.1:p.Leu319Arg
NM_001173975.1:c.788T>G (TCTN1)	NP_001167446.1:p.Leu263Arg
NM_001173975.2:c.788T>G (TCTN1)	NP_001167446.1:p.Leu263Arg
NM_001173975.3:c.788T>G (TCTN1)	NP_001167446.1:p.Leu263Arg
NM_001173976.1:c.776T>G (TCTN1)	NP_001167447.1:p.Leu259Arg
NM_001173976.2:c.776T>G (TCTN1)	NP_001167447.1:p.Leu259Arg
NM_001319680.1:c.956T>G (TCTN1)	NP_001306609.1:p.Leu319Arg
NM_001319680.2:c.956T>G (TCTN1)	NP_001306609.1:p.Leu319Arg
NM_001319681.1:c.422T>G (TCTN1)	NP_001306610.1:p.Leu141Arg
NM_001319681.2:c.422T>G (TCTN1)	NP_001306610.1:p.Leu141Arg
NM_024549.5:c.914T>G (TCTN1)	NP_078825.2:p.Leu305Arg
NM_024549.6:c.914T>G (TCTN1)	NP_078825.2:p.Leu305Arg
NR_135088.1:n.1468T>G (TCTN1)
NR_135088.2:n.1366T>G (TCTN1)
ENST00000377654.4:c.776T>G (TCTN1)	ENSP00000366882.4:p.Leu259Arg
ENST00000377654.5:c.956T>G (TCTN1)	ENSP00000366882.5:p.Leu319Arg
ENST00000397655.7:c.914T>G (TCTN1)	ENSP00000380775.3:p.Leu305Arg
ENST00000397656.8:c.*589T>G (TCTN1)	ENSP00000380776.4:n.*589T>G
ENST00000397659.8:c.956T>G (TCTN1)	ENSP00000380779.4:p.Leu319Arg
ENST00000463313.1:n.245T>G (TCTN1)
ENST00000464809.5:c.*1009T>G (TCTN1)	ENSP00000435027.1:n.*1009T>G
ENST00000471804.7:c.956T>G (TCTN1)	ENSP00000473903.2:p.Leu319Arg
ENST00000480648.5:c.*232T>G (TCTN1)	ENSP00000437196.1:n.*232T>G
ENST00000482281.6:n.948T>G (TCTN1)
ENST00000490514.5:c.*780T>G (TCTN1)	ENSP00000436044.1:n.*780T>G
ENST00000495659.6:c.*714T>G (TCTN1)	ENSP00000436673.2:n.*714T>G
ENST00000547461.2:c.50T>G (TCTN1)	ENSP00000448188.2:p.Leu17Arg
ENST00000547461.3:c.*126T>G (TCTN1)	ENSP00000448188.3:n.*126T>G
ENST00000548312.5:c.756+9673A>C (HVCN1)	ENSP00000449601.1:n.756+9673A>C
ENST00000549123.6:c.956T>G (TCTN1)	ENSP00000450154.2:p.Leu319Arg
ENST00000551555.2:n.626T>G (TCTN1)
ENST00000551590.5:c.956T>G (TCTN1)	ENSP00000448735.1:p.Leu319Arg
ENST00000552038.6:n.1026T>G (TCTN1)
ENST00000614115.4:c.914T>G (TCTN1)	ENSP00000484255.1:p.Leu305Arg
ENST00000614115.5:c.956T>G (TCTN1)	ENSP00000484255.2:p.Leu319Arg
ENST00000679473.1:c.*589T>G (TCTN1)	ENSP00000504983.1:n.*589T>G
ENST00000679617.1:c.*568T>G (TCTN1)	ENSP00000506626.1:n.*568T>G
ENST00000679713.1:c.*589T>G (TCTN1)	ENSP00000504975.1:n.*589T>G
ENST00000680068.1:c.*670T>G (TCTN1)	ENSP00000506300.1:n.*670T>G
ENST00000680445.1:c.843+3994T>G (TCTN1)	ENSP00000505462.1:n.843+3994T>G
ENST00000680512.1:c.*458T>G (TCTN1)	ENSP00000505935.1:n.*458T>G
ENST00000681395.1:c.*458T>G (TCTN1)	ENSP00000505886.1:n.*458T>G
ENST00000681604.1:c.*780T>G (TCTN1)	ENSP00000505920.1:n.*780T>G
ENST00000681807.1:c.*670T>G (TCTN1)	ENSP00000505236.1:n.*670T>G
ENST00000681851.1:c.*245T>G (TCTN1)	ENSP00000505956.1:n.*245T>G
XM_005253934.2:c.956T>G (TCTN1)	XP_005253991.1:p.Leu319Arg
XM_005253934.4:c.956T>G (TCTN1)	XP_005253991.1:p.Leu319Arg
XM_005253935.2:c.956T>G (TCTN1)	XP_005253992.1:p.Leu319Arg
XM_005253935.4:c.956T>G (TCTN1)	XP_005253992.1:p.Leu319Arg
XM_005253936.2:c.422T>G (TCTN1)	XP_005253993.1:p.Leu141Arg
XM_006719594.1:c.788T>G (TCTN1)	XP_006719657.1:p.Leu263Arg
XM_006719594.3:c.788T>G (TCTN1)	XP_006719657.1:p.Leu263Arg
XM_006719595.1:c.422T>G (TCTN1)	XP_006719658.1:p.Leu141Arg
XM_006719595.3:c.422T>G (TCTN1)	XP_006719658.1:p.Leu141Arg
XM_006719596.1:c.422T>G (TCTN1)	XP_006719659.1:p.Leu141Arg
XM_006719596.3:c.422T>G (TCTN1)	XP_006719659.1:p.Leu141Arg
XM_006719597.2:c.422T>G (TCTN1)	XP_006719660.1:p.Leu141Arg
XM_006719597.4:c.422T>G (TCTN1)	XP_006719660.1:p.Leu141Arg
XM_006719598.1:c.422T>G (TCTN1)	XP_006719661.1:p.Leu141Arg
XM_006719598.3:c.422T>G (TCTN1)	XP_006719661.1:p.Leu141Arg
XM_006719599.1:c.422T>G (TCTN1)	XP_006719662.1:p.Leu141Arg
XM_006719599.3:c.422T>G (TCTN1)	XP_006719662.1:p.Leu141Arg
XM_006719600.1:c.422T>G (TCTN1)	XP_006719663.1:p.Leu141Arg
XM_006719600.3:c.422T>G (TCTN1)	XP_006719663.1:p.Leu141Arg
XM_011538733.1:c.914T>G (TCTN1)	XP_011537035.1:p.Leu305Arg
XM_011538733.3:c.914T>G (TCTN1)	XP_011537035.1:p.Leu305Arg
XM_011538734.1:c.896T>G (TCTN1)	XP_011537036.1:p.Leu299Arg
XM_011538734.3:c.896T>G (TCTN1)	XP_011537036.1:p.Leu299Arg
XM_011538735.1:c.956T>G (TCTN1)	XP_011537037.1:p.Leu319Arg
XM_011538735.2:c.956T>G (TCTN1)	XP_011537037.1:p.Leu319Arg
XM_011538736.1:c.956T>G (TCTN1)	XP_011537038.1:p.Leu319Arg
XM_011538737.1:c.956T>G (TCTN1)	XP_011537039.1:p.Leu319Arg
XM_011538737.3:c.956T>G (TCTN1)	XP_011537039.1:p.Leu319Arg
XM_011538738.1:c.956T>G (TCTN1)	XP_011537040.1:p.Leu319Arg
XM_011538738.3:c.956T>G (TCTN1)	XP_011537040.1:p.Leu319Arg
XM_011538739.1:c.956T>G (TCTN1)	XP_011537041.1:p.Leu319Arg
XM_017019964.1:c.788T>G (TCTN1)	XP_016875453.1:p.Leu263Arg
XM_017019966.2:c.422T>G (TCTN1)	XP_016875455.1:p.Leu141Arg
XM_017019968.2:c.422T>G (TCTN1)	XP_016875457.1:p.Leu141Arg
XM_017019969.2:c.380T>G (TCTN1)	XP_016875458.1:p.Leu127Arg
XR_243021.2:n.1016T>G (TCTN1)
XR_243021.4:n.1010T>G (TCTN1)
XR_243022.2:n.1016T>G (TCTN1)
XR_243022.4:n.1010T>G (TCTN1)
XR_429116.1:n.1016T>G (TCTN1)
XR_429116.3:n.1010T>G (TCTN1)
XR_944717.1:n.1016T>G (TCTN1)
XR_944717.3:n.1010T>G (TCTN1)