Canonical Allele Identifier: CA386704052
Community Standard Title: NM_001082538.3(TCTN1):c.843+1G>C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110636502G>C , CM000674.2:g.110636502G>C GRCh38
NC_000012.11:g.111074307G>C , CM000674.1:g.111074307G>C GRCh37
NC_000012.10:g.109558690G>C NCBI36
NG_030381.1:g.27476G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.843+1G>C (TCTN1) MANE Select NP_001076007.1:n.843+1G>C
ENST00000397659.9:c.843+1G>C (TCTN1) MANE Select ENSP00000380779.4:n.843+1G>C
NM_001082537.2:c.843+1G>C (TCTN1) NP_001076006.1:n.843+1G>C
NM_001082537.3:c.843+1G>C (TCTN1) NP_001076006.1:n.843+1G>C
NM_001082538.2:c.843+1G>C (TCTN1) NP_001076007.1:n.843+1G>C
NM_001173975.1:c.675+1G>C (TCTN1) NP_001167446.1:n.675+1G>C
NM_001173975.2:c.675+1G>C (TCTN1) NP_001167446.1:n.675+1G>C
NM_001173975.3:c.675+1G>C (TCTN1) NP_001167446.1:n.675+1G>C
NM_001173976.1:c.663+1G>C (TCTN1) NP_001167447.1:n.663+1G>C
NM_001173976.2:c.663+1G>C (TCTN1) NP_001167447.1:n.663+1G>C
NM_001319680.1:c.843+1G>C (TCTN1) NP_001306609.1:n.843+1G>C
NM_001319680.2:c.843+1G>C (TCTN1) NP_001306609.1:n.843+1G>C
NM_001319681.1:c.309+1G>C (TCTN1) NP_001306610.1:n.309+1G>C
NM_001319681.2:c.309+1G>C (TCTN1) NP_001306610.1:n.309+1G>C
NM_024549.5:c.801+1G>C (TCTN1) NP_078825.2:n.801+1G>C
NM_024549.6:c.801+1G>C (TCTN1) NP_078825.2:n.801+1G>C
NR_135088.1:n.1355+1G>C (TCTN1)
NR_135088.2:n.1253+1G>C (TCTN1)
ENST00000377654.4:c.663+1G>C (TCTN1) ENSP00000366882.4:n.663+1G>C
ENST00000377654.5:c.843+1G>C (TCTN1) ENSP00000366882.5:n.843+1G>C
ENST00000397655.7:c.801+1G>C (TCTN1) ENSP00000380775.3:n.801+1G>C
ENST00000397656.8:c.*476+1G>C (TCTN1) ENSP00000380776.4:n.*476+1G>C
ENST00000397659.8:c.843+1G>C (TCTN1) ENSP00000380779.4:n.843+1G>C
ENST00000463313.1:n.132+1G>C (TCTN1)
ENST00000464809.5:c.*896+1G>C (TCTN1) ENSP00000435027.1:n.*896+1G>C
ENST00000471804.7:c.843+1G>C (TCTN1) ENSP00000473903.2:n.843+1G>C
ENST00000480648.5:c.*119+1G>C (TCTN1) ENSP00000437196.1:n.*119+1G>C
ENST00000482281.6:n.835+1G>C (TCTN1)
ENST00000490514.5:c.*667+1G>C (TCTN1) ENSP00000436044.1:n.*667+1G>C
ENST00000495659.6:c.*601+1G>C (TCTN1) ENSP00000436673.2:n.*601+1G>C
ENST00000547461.3:c.*13+1G>C (TCTN1) ENSP00000448188.3:n.*13+1G>C
ENST00000548312.5:c.757-8326C>G (HVCN1) ENSP00000449601.1:n.757-8326C>G
ENST00000549123.6:c.843+1G>C (TCTN1) ENSP00000450154.2:n.843+1G>C
ENST00000551555.2:n.513+1G>C (TCTN1)
ENST00000551590.5:c.843+1G>C (TCTN1) ENSP00000448735.1:n.843+1G>C
ENST00000552038.6:n.913+1G>C (TCTN1)
ENST00000614115.4:c.801+1G>C (TCTN1) ENSP00000484255.1:n.801+1G>C
ENST00000614115.5:c.843+1G>C (TCTN1) ENSP00000484255.2:n.843+1G>C
ENST00000679473.1:c.*476+1G>C (TCTN1) ENSP00000504983.1:n.*476+1G>C
ENST00000679617.1:c.*455+1G>C (TCTN1) ENSP00000506626.1:n.*455+1G>C
ENST00000679713.1:c.*476+1G>C (TCTN1) ENSP00000504975.1:n.*476+1G>C
ENST00000680068.1:c.*557+1G>C (TCTN1) ENSP00000506300.1:n.*557+1G>C
ENST00000680168.1:n.490+1G>C (TCTN1)
ENST00000680445.1:c.843+1G>C (TCTN1) ENSP00000505462.1:n.843+1G>C
ENST00000680512.1:c.*345+1G>C (TCTN1) ENSP00000505935.1:n.*345+1G>C
ENST00000681395.1:c.*345+1G>C (TCTN1) ENSP00000505886.1:n.*345+1G>C
ENST00000681604.1:c.*667+1G>C (TCTN1) ENSP00000505920.1:n.*667+1G>C
ENST00000681807.1:c.*557+1G>C (TCTN1) ENSP00000505236.1:n.*557+1G>C
ENST00000681851.1:c.*132+1G>C (TCTN1) ENSP00000505956.1:n.*132+1G>C
XM_005253934.2:c.843+1G>C (TCTN1) XP_005253991.1:n.843+1G>C
XM_005253934.4:c.843+1G>C (TCTN1) XP_005253991.1:n.843+1G>C
XM_005253935.2:c.843+1G>C (TCTN1) XP_005253992.1:n.843+1G>C
XM_005253935.4:c.843+1G>C (TCTN1) XP_005253992.1:n.843+1G>C
XM_005253936.2:c.309+1G>C (TCTN1) XP_005253993.1:n.309+1G>C
XM_006719594.1:c.675+1G>C (TCTN1) XP_006719657.1:n.675+1G>C
XM_006719594.3:c.675+1G>C (TCTN1) XP_006719657.1:n.675+1G>C
XM_006719595.1:c.309+1G>C (TCTN1) XP_006719658.1:n.309+1G>C
XM_006719595.3:c.309+1G>C (TCTN1) XP_006719658.1:n.309+1G>C
XM_006719596.1:c.309+1G>C (TCTN1) XP_006719659.1:n.309+1G>C
XM_006719596.3:c.309+1G>C (TCTN1) XP_006719659.1:n.309+1G>C
XM_006719597.2:c.309+1G>C (TCTN1) XP_006719660.1:n.309+1G>C
XM_006719597.4:c.309+1G>C (TCTN1) XP_006719660.1:n.309+1G>C
XM_006719598.1:c.309+1G>C (TCTN1) XP_006719661.1:n.309+1G>C
XM_006719598.3:c.309+1G>C (TCTN1) XP_006719661.1:n.309+1G>C
XM_006719599.1:c.309+1G>C (TCTN1) XP_006719662.1:n.309+1G>C
XM_006719599.3:c.309+1G>C (TCTN1) XP_006719662.1:n.309+1G>C
XM_006719600.1:c.309+1G>C (TCTN1) XP_006719663.1:n.309+1G>C
XM_006719600.3:c.309+1G>C (TCTN1) XP_006719663.1:n.309+1G>C
XM_011538733.1:c.801+1G>C (TCTN1) XP_011537035.1:n.801+1G>C
XM_011538733.3:c.801+1G>C (TCTN1) XP_011537035.1:n.801+1G>C
XM_011538734.1:c.783+1G>C (TCTN1) XP_011537036.1:n.783+1G>C
XM_011538734.3:c.783+1G>C (TCTN1) XP_011537036.1:n.783+1G>C
XM_011538735.1:c.843+1G>C (TCTN1) XP_011537037.1:n.843+1G>C
XM_011538735.2:c.843+1G>C (TCTN1) XP_011537037.1:n.843+1G>C
XM_011538736.1:c.843+1G>C (TCTN1) XP_011537038.1:n.843+1G>C
XM_011538737.1:c.843+1G>C (TCTN1) XP_011537039.1:n.843+1G>C
XM_011538737.3:c.843+1G>C (TCTN1) XP_011537039.1:n.843+1G>C
XM_011538738.1:c.843+1G>C (TCTN1) XP_011537040.1:n.843+1G>C
XM_011538738.3:c.843+1G>C (TCTN1) XP_011537040.1:n.843+1G>C
XM_011538739.1:c.843+1G>C (TCTN1) XP_011537041.1:n.843+1G>C
XM_017019964.1:c.675+1G>C (TCTN1) XP_016875453.1:n.675+1G>C
XM_017019966.2:c.309+1G>C (TCTN1) XP_016875455.1:n.309+1G>C
XM_017019968.2:c.309+1G>C (TCTN1) XP_016875457.1:n.309+1G>C
XM_017019969.2:c.267+1G>C (TCTN1) XP_016875458.1:n.267+1G>C
XR_243021.2:n.903+1G>C (TCTN1)
XR_243021.4:n.897+1G>C (TCTN1)
XR_243022.2:n.903+1G>C (TCTN1)
XR_243022.4:n.897+1G>C (TCTN1)
XR_429116.1:n.903+1G>C (TCTN1)
XR_429116.3:n.897+1G>C (TCTN1)
XR_944717.1:n.903+1G>C (TCTN1)
XR_944717.3:n.897+1G>C (TCTN1)