Canonical Allele Identifier: CA386695121
Community Standard Title: NM_001082538.3(TCTN1):c.1495-2A>G
Gene: TCTN1 HGNC NCBI
HVCN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110647194A>G , CM000674.2:g.110647194A>G GRCh38
NC_000012.11:g.111084999A>G , CM000674.1:g.111084999A>G GRCh37
NC_000012.10:g.109569382A>G NCBI36
NG_030381.1:g.38168A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.1495-2A>G (TCTN1) MANE Select NP_001076007.1:n.1495-2A>G
ENST00000397659.9:c.1495-2A>G (TCTN1) MANE Select ENSP00000380779.4:n.1495-2A>G
NM_001082537.2:c.1495-17A>G (TCTN1) NP_001076006.1:n.1495-17A>G
NM_001082537.3:c.1495-17A>G (TCTN1) NP_001076006.1:n.1495-17A>G
NM_001082538.2:c.1495-2A>G (TCTN1) NP_001076007.1:n.1495-2A>G
NM_001173975.1:c.1327-17A>G (TCTN1) NP_001167446.1:n.1327-17A>G
NM_001173975.2:c.1327-17A>G (TCTN1) NP_001167446.1:n.1327-17A>G
NM_001173975.3:c.1327-17A>G (TCTN1) NP_001167446.1:n.1327-17A>G
NM_001173976.1:c.1168-2A>G (TCTN1) NP_001167447.1:n.1168-2A>G
NM_001173976.2:c.1168-2A>G (TCTN1) NP_001167447.1:n.1168-2A>G
NM_001319680.1:c.1348-17A>G (TCTN1) NP_001306609.1:n.1348-17A>G
NM_001319680.2:c.1348-17A>G (TCTN1) NP_001306609.1:n.1348-17A>G
NM_001319681.1:c.961-17A>G (TCTN1) NP_001306610.1:n.961-17A>G
NM_001319681.2:c.961-17A>G (TCTN1) NP_001306610.1:n.961-17A>G
NM_024549.5:c.1453-17A>G (TCTN1) NP_078825.2:n.1453-17A>G
NM_024549.6:c.1453-17A>G (TCTN1) NP_078825.2:n.1453-17A>G
NR_135088.1:n.1780-17A>G (TCTN1)
NR_135088.2:n.1678-17A>G (TCTN1)
ENST00000377654.4:c.1168-2A>G (TCTN1) ENSP00000366882.4:n.1168-2A>G
ENST00000377654.5:c.1243-17A>G (TCTN1) ENSP00000366882.5:n.1243-17A>G
ENST00000397655.7:c.1453-17A>G (TCTN1) ENSP00000380775.3:n.1453-17A>G
ENST00000397656.8:c.*1128-17A>G (TCTN1) ENSP00000380776.4:n.*1128-17A>G
ENST00000397659.8:c.1495-2A>G (TCTN1) ENSP00000380779.4:n.1495-2A>G
ENST00000460357.1:n.3839A>G (TCTN1)
ENST00000463313.1:n.445-17A>G (TCTN1)
ENST00000464809.5:c.*1321-17A>G (TCTN1) ENSP00000435027.1:n.*1321-17A>G
ENST00000480648.5:c.*771-17A>G (TCTN1) ENSP00000437196.1:n.*771-17A>G
ENST00000485445.5:n.475-17A>G (TCTN1)
ENST00000490514.5:c.*1172-2A>G (TCTN1) ENSP00000436044.1:n.*1172-2A>G
ENST00000491068.5:n.423-17A>G (TCTN1)
ENST00000495659.6:c.*1253-17A>G (TCTN1) ENSP00000436673.2:n.*1253-17A>G
ENST00000547461.2:c.236-17A>G (TCTN1) ENSP00000448188.2:n.236-17A>G
ENST00000547461.3:c.*312-17A>G (TCTN1) ENSP00000448188.3:n.*312-17A>G
ENST00000548312.5:c.756+2974T>C (HVCN1) ENSP00000449601.1:n.756+2974T>C
ENST00000549123.5:c.-139-17A>G (TCTN1) ENSP00000450154.1:n.-139-17A>G
ENST00000549123.6:c.1105-17A>G (TCTN1) ENSP00000450154.2:n.1105-17A>G
ENST00000551590.5:c.1495-17A>G (TCTN1) ENSP00000448735.1:n.1495-17A>G
ENST00000552038.5:n.602-17A>G (TCTN1)
ENST00000552038.6:n.2161-17A>G (TCTN1)
ENST00000614115.4:c.1453-17A>G (TCTN1) ENSP00000484255.1:n.1453-17A>G
ENST00000614115.5:c.1348-17A>G (TCTN1) ENSP00000484255.2:n.1348-17A>G
ENST00000679617.1:c.*1110-17A>G (TCTN1) ENSP00000506626.1:n.*1110-17A>G
ENST00000679713.1:c.*612-17A>G (TCTN1) ENSP00000504975.1:n.*612-17A>G
ENST00000680068.1:c.*982-17A>G (TCTN1) ENSP00000506300.1:n.*982-17A>G
ENST00000680445.1:c.844-17A>G (TCTN1) ENSP00000505462.1:n.844-17A>G
ENST00000680512.1:c.*945-17A>G (TCTN1) ENSP00000505935.1:n.*945-17A>G
ENST00000681395.1:c.*957-17A>G (TCTN1) ENSP00000505886.1:n.*957-17A>G
ENST00000681807.1:c.*1155-17A>G (TCTN1) ENSP00000505236.1:n.*1155-17A>G
ENST00000681851.1:c.*730-17A>G (TCTN1) ENSP00000505956.1:n.*730-17A>G
XM_005253934.2:c.979-2A>G (TCTN1) XP_005253991.1:n.979-2A>G
XM_005253934.4:c.979-2A>G (TCTN1) XP_005253991.1:n.979-2A>G
XM_005253935.2:c.979-17A>G (TCTN1) XP_005253992.1:n.979-17A>G
XM_005253935.4:c.979-17A>G (TCTN1) XP_005253992.1:n.979-17A>G
XM_005253936.2:c.961-17A>G (TCTN1) XP_005253993.1:n.961-17A>G
XM_006719594.1:c.1327-2A>G (TCTN1) XP_006719657.1:n.1327-2A>G
XM_006719594.3:c.1327-2A>G (TCTN1) XP_006719657.1:n.1327-2A>G
XM_006719595.1:c.961-2A>G (TCTN1) XP_006719658.1:n.961-2A>G
XM_006719595.3:c.961-2A>G (TCTN1) XP_006719658.1:n.961-2A>G
XM_006719596.1:c.961-2A>G (TCTN1) XP_006719659.1:n.961-2A>G
XM_006719596.3:c.961-2A>G (TCTN1) XP_006719659.1:n.961-2A>G
XM_006719597.2:c.961-2A>G (TCTN1) XP_006719660.1:n.961-2A>G
XM_006719597.4:c.961-2A>G (TCTN1) XP_006719660.1:n.961-2A>G
XM_006719598.1:c.961-2A>G (TCTN1) XP_006719661.1:n.961-2A>G
XM_006719598.3:c.961-2A>G (TCTN1) XP_006719661.1:n.961-2A>G
XM_006719599.1:c.961-2A>G (TCTN1) XP_006719662.1:n.961-2A>G
XM_006719599.3:c.961-2A>G (TCTN1) XP_006719662.1:n.961-2A>G
XM_006719600.1:c.961-2A>G (TCTN1) XP_006719663.1:n.961-2A>G
XM_006719600.3:c.961-2A>G (TCTN1) XP_006719663.1:n.961-2A>G
XM_011538733.1:c.1453-2A>G (TCTN1) XP_011537035.1:n.1453-2A>G
XM_011538733.3:c.1453-2A>G (TCTN1) XP_011537035.1:n.1453-2A>G
XM_011538734.1:c.1435-2A>G (TCTN1) XP_011537036.1:n.1435-2A>G
XM_011538734.3:c.1435-2A>G (TCTN1) XP_011537036.1:n.1435-2A>G
XM_011538735.1:c.1348-2A>G (TCTN1) XP_011537037.1:n.1348-2A>G
XM_011538735.2:c.1348-2A>G (TCTN1) XP_011537037.1:n.1348-2A>G
XM_011538736.1:c.1348-17A>G (TCTN1) XP_011537038.1:n.1348-17A>G
XM_011538737.1:c.1282-17A>G (TCTN1) XP_011537039.1:n.1282-17A>G
XM_011538737.3:c.1282-17A>G (TCTN1) XP_011537039.1:n.1282-17A>G
XM_011538738.1:c.1156-17A>G (TCTN1) XP_011537040.1:n.1156-17A>G
XM_011538738.3:c.1156-17A>G (TCTN1) XP_011537040.1:n.1156-17A>G
XM_011538739.1:c.1105-17A>G (TCTN1) XP_011537041.1:n.1105-17A>G
XM_017019964.1:c.1180-17A>G (TCTN1) XP_016875453.1:n.1180-17A>G
XM_017019966.2:c.961-2A>G (TCTN1) XP_016875455.1:n.961-2A>G
XM_017019968.2:c.961-2A>G (TCTN1) XP_016875457.1:n.961-2A>G
XM_017019969.2:c.919-2A>G (TCTN1) XP_016875458.1:n.919-2A>G
XR_243021.2:n.1328-17A>G (TCTN1)
XR_243021.4:n.1322-17A>G (TCTN1)
XR_243022.2:n.1202-17A>G (TCTN1)
XR_243022.4:n.1196-17A>G (TCTN1)
XR_429116.1:n.1328-2A>G (TCTN1)
XR_429116.3:n.1322-2A>G (TCTN1)
XR_944717.1:n.1569-17A>G (TCTN1)
XR_944717.3:n.1563-17A>G (TCTN1)
Search 100 bp 5'
Search 100 bp 3'