Canonical Allele Identifier: CA147035

Gene: TCTN1 HVCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110642292A>G , CM000674.2:g.110642292A>G	GRCh38
NC_000012.11:g.111080097A>G , CM000674.1:g.111080097A>G	GRCh37
NC_000012.10:g.109564480A>G	NCBI36
NG_030381.1:g.33266A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001082538.3:c.1234A>G (TCTN1) MANE Select	NP_001076007.1:p.Ile412Val
ENST00000397659.9:c.1234A>G (TCTN1) MANE Select	ENSP00000380779.4:p.Ile412Val
NM_001082537.2:c.1234A>G (TCTN1)	NP_001076006.1:p.Ile412Val
NM_001082537.3:c.1234A>G (TCTN1)	NP_001076006.1:p.Ile412Val
NM_001082538.2:c.1234A>G (TCTN1)	NP_001076007.1:p.Ile412Val
NM_001173975.1:c.1066A>G (TCTN1)	NP_001167446.1:p.Ile356Val
NM_001173975.2:c.1066A>G (TCTN1)	NP_001167446.1:p.Ile356Val
NM_001173975.3:c.1066A>G (TCTN1)	NP_001167446.1:p.Ile356Val
NM_001173976.1:c.1010+665A>G (TCTN1)	NP_001167447.1:n.1010+665A>G
NM_001173976.2:c.1010+665A>G (TCTN1)	NP_001167447.1:n.1010+665A>G
NM_001319680.1:c.1190+665A>G (TCTN1)	NP_001306609.1:n.1190+665A>G
NM_001319680.2:c.1190+665A>G (TCTN1)	NP_001306609.1:n.1190+665A>G
NM_001319681.1:c.700A>G (TCTN1)	NP_001306610.1:p.Ile234Val
NM_001319681.2:c.700A>G (TCTN1)	NP_001306610.1:p.Ile234Val
NM_024549.5:c.1192A>G (TCTN1)	NP_078825.2:p.Ile398Val
NM_024549.6:c.1192A>G (TCTN1)	NP_078825.2:p.Ile398Val
NR_135088.1:n.1616+1143A>G (TCTN1)
NR_135088.2:n.1514+1143A>G (TCTN1)
ENST00000377654.4:c.1008+667A>G (TCTN1)	ENSP00000366882.4:n.1008+667A>G
ENST00000377654.5:c.1104+1143A>G (TCTN1)	ENSP00000366882.5:n.1104+1143A>G
ENST00000397655.7:c.1192A>G (TCTN1)	ENSP00000380775.3:p.Ile398Val
ENST00000397656.8:c.*867A>G (TCTN1)	ENSP00000380776.4:n.*867A>G
ENST00000397659.8:c.1234A>G (TCTN1)	ENSP00000380779.4:p.Ile412Val
ENST00000463313.1:n.267+1775A>G (TCTN1)
ENST00000464809.5:c.*1157+1143A>G (TCTN1)	ENSP00000435027.1:n.*1157+1143A>G
ENST00000471804.7:c.1104+1143A>G (TCTN1)	ENSP00000473903.2:n.1104+1143A>G
ENST00000480648.5:c.*510A>G (TCTN1)	ENSP00000437196.1:n.*510A>G
ENST00000490514.5:c.*1014+665A>G (TCTN1)	ENSP00000436044.1:n.*1014+665A>G
ENST00000495659.6:c.*992A>G (TCTN1)	ENSP00000436673.2:n.*992A>G
ENST00000547461.2:c.72+1775A>G (TCTN1)	ENSP00000448188.2:n.72+1775A>G
ENST00000547461.3:c.*148+1775A>G (TCTN1)	ENSP00000448188.3:n.*148+1775A>G
ENST00000548312.5:c.756+7876T>C (HVCN1)	ENSP00000449601.1:n.756+7876T>C
ENST00000549123.5:c.-140+1143A>G (TCTN1)	ENSP00000450154.1:n.-140+1143A>G
ENST00000549123.6:c.1104+1143A>G (TCTN1)	ENSP00000450154.2:n.1104+1143A>G
ENST00000551590.5:c.1234A>G (TCTN1)	ENSP00000448735.1:p.Ile412Val
ENST00000552038.5:n.341A>G (TCTN1)
ENST00000552038.6:n.1925A>G (TCTN1)
ENST00000614115.4:c.1192A>G (TCTN1)	ENSP00000484255.1:p.Ile398Val
ENST00000614115.5:c.1190+665A>G (TCTN1)	ENSP00000484255.2:n.1190+665A>G
ENST00000679473.1:c.*823+665A>G (TCTN1)	ENSP00000504983.1:n.*823+665A>G
ENST00000679617.1:c.*802+665A>G (TCTN1)	ENSP00000506626.1:n.*802+665A>G
ENST00000679713.1:c.*611+1775A>G (TCTN1)	ENSP00000504975.1:n.*611+1775A>G
ENST00000680068.1:c.*818+1143A>G (TCTN1)	ENSP00000506300.1:n.*818+1143A>G
ENST00000680445.1:c.844-4919A>G (TCTN1)	ENSP00000505462.1:n.844-4919A>G
ENST00000680512.1:c.*694+663A>G (TCTN1)	ENSP00000505935.1:n.*694+663A>G
ENST00000681395.1:c.*692+665A>G (TCTN1)	ENSP00000505886.1:n.*692+665A>G
ENST00000681604.1:c.*1014+665A>G (TCTN1)	ENSP00000505920.1:n.*1014+665A>G
ENST00000681807.1:c.*904+665A>G (TCTN1)	ENSP00000505236.1:n.*904+665A>G
ENST00000681851.1:c.*479+665A>G (TCTN1)	ENSP00000505956.1:n.*479+665A>G
XM_005253934.2:c.978+1775A>G (TCTN1)	XP_005253991.1:n.978+1775A>G
XM_005253934.4:c.978+1775A>G (TCTN1)	XP_005253991.1:n.978+1775A>G
XM_005253935.2:c.978+1775A>G (TCTN1)	XP_005253992.1:n.978+1775A>G
XM_005253935.4:c.978+1775A>G (TCTN1)	XP_005253992.1:n.978+1775A>G
XM_005253936.2:c.700A>G (TCTN1)	XP_005253993.1:p.Ile234Val
XM_006719594.1:c.1066A>G (TCTN1)	XP_006719657.1:p.Ile356Val
XM_006719594.3:c.1066A>G (TCTN1)	XP_006719657.1:p.Ile356Val
XM_006719595.1:c.700A>G (TCTN1)	XP_006719658.1:p.Ile234Val
XM_006719595.3:c.700A>G (TCTN1)	XP_006719658.1:p.Ile234Val
XM_006719596.1:c.700A>G (TCTN1)	XP_006719659.1:p.Ile234Val
XM_006719596.3:c.700A>G (TCTN1)	XP_006719659.1:p.Ile234Val
XM_006719597.2:c.700A>G (TCTN1)	XP_006719660.1:p.Ile234Val
XM_006719597.4:c.700A>G (TCTN1)	XP_006719660.1:p.Ile234Val
XM_006719598.1:c.700A>G (TCTN1)	XP_006719661.1:p.Ile234Val
XM_006719598.3:c.700A>G (TCTN1)	XP_006719661.1:p.Ile234Val
XM_006719599.1:c.700A>G (TCTN1)	XP_006719662.1:p.Ile234Val
XM_006719599.3:c.700A>G (TCTN1)	XP_006719662.1:p.Ile234Val
XM_006719600.1:c.700A>G (TCTN1)	XP_006719663.1:p.Ile234Val
XM_006719600.3:c.700A>G (TCTN1)	XP_006719663.1:p.Ile234Val
XM_011538733.1:c.1192A>G (TCTN1)	XP_011537035.1:p.Ile398Val
XM_011538733.3:c.1192A>G (TCTN1)	XP_011537035.1:p.Ile398Val
XM_011538734.1:c.1174A>G (TCTN1)	XP_011537036.1:p.Ile392Val
XM_011538734.3:c.1174A>G (TCTN1)	XP_011537036.1:p.Ile392Val
XM_011538735.1:c.1190+665A>G (TCTN1)	XP_011537037.1:n.1190+665A>G
XM_011538735.2:c.1190+665A>G (TCTN1)	XP_011537037.1:n.1190+665A>G
XM_011538736.1:c.1190+665A>G (TCTN1)	XP_011537038.1:n.1190+665A>G
XM_011538737.1:c.1104+1143A>G (TCTN1)	XP_011537039.1:n.1104+1143A>G
XM_011538737.3:c.1104+1143A>G (TCTN1)	XP_011537039.1:n.1104+1143A>G
XM_011538738.1:c.978+1775A>G (TCTN1)	XP_011537040.1:n.978+1775A>G
XM_011538738.3:c.978+1775A>G (TCTN1)	XP_011537040.1:n.978+1775A>G
XM_011538739.1:c.1104+1143A>G (TCTN1)	XP_011537041.1:n.1104+1143A>G
XM_017019964.1:c.1022+665A>G (TCTN1)	XP_016875453.1:n.1022+665A>G
XM_017019966.2:c.700A>G (TCTN1)	XP_016875455.1:p.Ile234Val
XM_017019968.2:c.700A>G (TCTN1)	XP_016875457.1:p.Ile234Val
XM_017019969.2:c.658A>G (TCTN1)	XP_016875458.1:p.Ile220Val
XR_243021.2:n.1164+1143A>G (TCTN1)
XR_243021.4:n.1158+1143A>G (TCTN1)
XR_243022.2:n.1038+1775A>G (TCTN1)
XR_243022.4:n.1032+1775A>G (TCTN1)
XR_429116.1:n.1164+1143A>G (TCTN1)
XR_429116.3:n.1158+1143A>G (TCTN1)
XR_944717.1:n.1294A>G (TCTN1)
XR_944717.3:n.1288A>G (TCTN1)