Canonical Allele Identifier: CA386703709
Community Standard Title: NM_001082538.3(TCTN1):c.713-2A>G
Gene: TCTN1 HGNC NCBI
HVCN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110634668A>G , CM000674.2:g.110634668A>G GRCh38
NC_000012.11:g.111072473A>G , CM000674.1:g.111072473A>G GRCh37
NC_000012.10:g.109556856A>G NCBI36
NG_030381.1:g.25642A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.713-2A>G (TCTN1) MANE Select NP_001076007.1:n.713-2A>G
ENST00000397659.9:c.713-2A>G (TCTN1) MANE Select ENSP00000380779.4:n.713-2A>G
NM_001082537.2:c.713-2A>G (TCTN1) NP_001076006.1:n.713-2A>G
NM_001082537.3:c.713-2A>G (TCTN1) NP_001076006.1:n.713-2A>G
NM_001082538.2:c.713-2A>G (TCTN1) NP_001076007.1:n.713-2A>G
NM_001173975.1:c.545-2A>G (TCTN1) NP_001167446.1:n.545-2A>G
NM_001173975.2:c.545-2A>G (TCTN1) NP_001167446.1:n.545-2A>G
NM_001173975.3:c.545-2A>G (TCTN1) NP_001167446.1:n.545-2A>G
NM_001173976.1:c.533-2A>G (TCTN1) NP_001167447.1:n.533-2A>G
NM_001173976.2:c.533-2A>G (TCTN1) NP_001167447.1:n.533-2A>G
NM_001319680.1:c.713-2A>G (TCTN1) NP_001306609.1:n.713-2A>G
NM_001319680.2:c.713-2A>G (TCTN1) NP_001306609.1:n.713-2A>G
NM_001319681.1:c.179-2A>G (TCTN1) NP_001306610.1:n.179-2A>G
NM_001319681.2:c.179-2A>G (TCTN1) NP_001306610.1:n.179-2A>G
NM_024549.5:c.780+205A>G (TCTN1) NP_078825.2:n.780+205A>G
NM_024549.6:c.780+205A>G (TCTN1) NP_078825.2:n.780+205A>G
NR_135088.1:n.1225-2A>G (TCTN1)
NR_135088.2:n.1123-2A>G (TCTN1)
ENST00000377654.4:c.533-2A>G (TCTN1) ENSP00000366882.4:n.533-2A>G
ENST00000377654.5:c.713-2A>G (TCTN1) ENSP00000366882.5:n.713-2A>G
ENST00000397655.7:c.780+205A>G (TCTN1) ENSP00000380775.3:n.780+205A>G
ENST00000397656.8:c.*346-2A>G (TCTN1) ENSP00000380776.4:n.*346-2A>G
ENST00000397659.8:c.713-2A>G (TCTN1) ENSP00000380779.4:n.713-2A>G
ENST00000464809.5:c.*766-2A>G (TCTN1) ENSP00000435027.1:n.*766-2A>G
ENST00000471804.7:c.713-2A>G (TCTN1) ENSP00000473903.2:n.713-2A>G
ENST00000480648.5:c.781-2A>G (TCTN1) ENSP00000437196.1:n.781-2A>G
ENST00000490514.5:c.*537-2A>G (TCTN1) ENSP00000436044.1:n.*537-2A>G
ENST00000495659.6:c.*471-2A>G (TCTN1) ENSP00000436673.2:n.*471-2A>G
ENST00000547461.3:c.713-1813A>G (TCTN1) ENSP00000448188.3:n.713-1813A>G
ENST00000548312.5:c.757-6492T>C (HVCN1) ENSP00000449601.1:n.757-6492T>C
ENST00000549123.6:c.713-2A>G (TCTN1) ENSP00000450154.2:n.713-2A>G
ENST00000551555.2:n.493-1813A>G (TCTN1)
ENST00000551590.5:c.713-2A>G (TCTN1) ENSP00000448735.1:n.713-2A>G
ENST00000552038.6:n.783-2A>G (TCTN1)
ENST00000614115.4:c.780+205A>G (TCTN1) ENSP00000484255.1:n.780+205A>G
ENST00000614115.5:c.713-2A>G (TCTN1) ENSP00000484255.2:n.713-2A>G
ENST00000679473.1:c.*346-2A>G (TCTN1) ENSP00000504983.1:n.*346-2A>G
ENST00000679617.1:c.*325-2A>G (TCTN1) ENSP00000506626.1:n.*325-2A>G
ENST00000679713.1:c.*346-2A>G (TCTN1) ENSP00000504975.1:n.*346-2A>G
ENST00000680068.1:c.*537-1813A>G (TCTN1) ENSP00000506300.1:n.*537-1813A>G
ENST00000680168.1:n.358A>G (TCTN1)
ENST00000680445.1:c.713-2A>G (TCTN1) ENSP00000505462.1:n.713-2A>G
ENST00000680512.1:c.*325-1813A>G (TCTN1) ENSP00000505935.1:n.*325-1813A>G
ENST00000680571.1:n.999+205A>G (TCTN1)
ENST00000681395.1:c.*325-1813A>G (TCTN1) ENSP00000505886.1:n.*325-1813A>G
ENST00000681604.1:c.*537-2A>G (TCTN1) ENSP00000505920.1:n.*537-2A>G
ENST00000681807.1:c.*537-1813A>G (TCTN1) ENSP00000505236.1:n.*537-1813A>G
ENST00000681851.1:c.713-2A>G (TCTN1) ENSP00000505956.1:n.713-2A>G
XM_005253934.2:c.713-2A>G (TCTN1) XP_005253991.1:n.713-2A>G
XM_005253934.4:c.713-2A>G (TCTN1) XP_005253991.1:n.713-2A>G
XM_005253935.2:c.713-2A>G (TCTN1) XP_005253992.1:n.713-2A>G
XM_005253935.4:c.713-2A>G (TCTN1) XP_005253992.1:n.713-2A>G
XM_005253936.2:c.179-2A>G (TCTN1) XP_005253993.1:n.179-2A>G
XM_006719594.1:c.545-2A>G (TCTN1) XP_006719657.1:n.545-2A>G
XM_006719594.3:c.545-2A>G (TCTN1) XP_006719657.1:n.545-2A>G
XM_006719595.1:c.179-2A>G (TCTN1) XP_006719658.1:n.179-2A>G
XM_006719595.3:c.179-2A>G (TCTN1) XP_006719658.1:n.179-2A>G
XM_006719596.1:c.179-2A>G (TCTN1) XP_006719659.1:n.179-2A>G
XM_006719596.3:c.179-2A>G (TCTN1) XP_006719659.1:n.179-2A>G
XM_006719597.2:c.179-2A>G (TCTN1) XP_006719660.1:n.179-2A>G
XM_006719597.4:c.179-2A>G (TCTN1) XP_006719660.1:n.179-2A>G
XM_006719598.1:c.179-2A>G (TCTN1) XP_006719661.1:n.179-2A>G
XM_006719598.3:c.179-2A>G (TCTN1) XP_006719661.1:n.179-2A>G
XM_006719599.1:c.179-2A>G (TCTN1) XP_006719662.1:n.179-2A>G
XM_006719599.3:c.179-2A>G (TCTN1) XP_006719662.1:n.179-2A>G
XM_006719600.1:c.179-2A>G (TCTN1) XP_006719663.1:n.179-2A>G
XM_006719600.3:c.179-2A>G (TCTN1) XP_006719663.1:n.179-2A>G
XM_011538733.1:c.780+205A>G (TCTN1) XP_011537035.1:n.780+205A>G
XM_011538733.3:c.780+205A>G (TCTN1) XP_011537035.1:n.780+205A>G
XM_011538734.1:c.653-2A>G (TCTN1) XP_011537036.1:n.653-2A>G
XM_011538734.3:c.653-2A>G (TCTN1) XP_011537036.1:n.653-2A>G
XM_011538735.1:c.713-2A>G (TCTN1) XP_011537037.1:n.713-2A>G
XM_011538735.2:c.713-2A>G (TCTN1) XP_011537037.1:n.713-2A>G
XM_011538736.1:c.713-2A>G (TCTN1) XP_011537038.1:n.713-2A>G
XM_011538737.1:c.713-2A>G (TCTN1) XP_011537039.1:n.713-2A>G
XM_011538737.3:c.713-2A>G (TCTN1) XP_011537039.1:n.713-2A>G
XM_011538738.1:c.713-2A>G (TCTN1) XP_011537040.1:n.713-2A>G
XM_011538738.3:c.713-2A>G (TCTN1) XP_011537040.1:n.713-2A>G
XM_011538739.1:c.713-2A>G (TCTN1) XP_011537041.1:n.713-2A>G
XM_017019964.1:c.545-2A>G (TCTN1) XP_016875453.1:n.545-2A>G
XM_017019966.2:c.179-2A>G (TCTN1) XP_016875455.1:n.179-2A>G
XM_017019968.2:c.179-2A>G (TCTN1) XP_016875457.1:n.179-2A>G
XM_017019969.2:c.246+205A>G (TCTN1) XP_016875458.1:n.246+205A>G
XR_243021.2:n.773-2A>G (TCTN1)
XR_243021.4:n.767-2A>G (TCTN1)
XR_243022.2:n.773-2A>G (TCTN1)
XR_243022.4:n.767-2A>G (TCTN1)
XR_429116.1:n.773-2A>G (TCTN1)
XR_429116.3:n.767-2A>G (TCTN1)
XR_944717.1:n.773-2A>G (TCTN1)
XR_944717.3:n.767-2A>G (TCTN1)
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