Canonical Allele Identifier: CA249937

Gene: TCTN1

Linked Data

• ClinVar Variation Id: 183312
• ClinVar RCV Id: RCV000162131 ; RCV000201626
• dbSNP Id: rs730882221
• gnomAD v4: 12-110626360-A-G
• MyVariant Identifiers: chr12:g.111064165A>G (hg19) ; chr12:g.110626360A>G (hg38)
• PubMed: PMID:25558065 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110626360A>G , CM000674.2:g.110626360A>G	GRCh38
NC_000012.11:g.111064165A>G , CM000674.1:g.111064165A>G	GRCh37
NC_000012.10:g.109548548A>G	NCBI36
NG_030381.1:g.17334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377654.5:c.342-2A>G	ENSP00000366882.5:n.342-2A>G
ENST00000397659.9:c.342-2A>G MANE Select	ENSP00000380779.4:n.342-2A>G
ENST00000471804.7:c.342-2A>G	ENSP00000473903.2:n.342-2A>G
ENST00000547461.3:c.342-2A>G	ENSP00000448188.3:n.342-2A>G
ENST00000549123.6:c.342-2A>G	ENSP00000450154.2:n.342-2A>G
ENST00000551555.3:n.395-2A>G
ENST00000552038.6:n.412-2A>G
ENST00000614115.5:c.342-2A>G	ENSP00000484255.2:n.342-2A>G
ENST00000679401.1:c.282-2A>G	ENSP00000506277.1:n.282-2A>G
ENST00000679473.1:c.342-2A>G	ENSP00000504983.1:n.342-2A>G
ENST00000679617.1:c.221-2A>G	ENSP00000506626.1:n.221-2A>G
ENST00000679713.1:c.342-2A>G	ENSP00000504975.1:n.342-2A>G
ENST00000680068.1:c.*166-2A>G	ENSP00000506300.1:n.*166-2A>G
ENST00000680203.1:c.342-2A>G	ENSP00000505195.1:n.342-2A>G
ENST00000680445.1:c.342-2A>G	ENSP00000505462.1:n.342-2A>G
ENST00000680512.1:c.221-2A>G	ENSP00000505935.1:n.221-2A>G
ENST00000680548.1:c.*29-2A>G	ENSP00000505310.1:n.*29-2A>G
ENST00000680571.1:n.388-2A>G
ENST00000681395.1:c.221-2A>G	ENSP00000505886.1:n.221-2A>G
ENST00000681437.1:c.342-2A>G	ENSP00000505004.1:n.342-2A>G
ENST00000681604.1:c.*166-2A>G	ENSP00000505920.1:n.*166-2A>G
ENST00000681740.1:n.388-2A>G
ENST00000681807.1:c.*166-2A>G	ENSP00000505236.1:n.*166-2A>G
ENST00000681851.1:c.342-2A>G	ENSP00000505956.1:n.342-2A>G
ENST00000377654.4:c.162-2A>G	ENSP00000366882.4:n.162-2A>G
ENST00000397655.7:c.342-2A>G	ENSP00000380775.3:n.342-2A>G
ENST00000397656.8:c.342-2A>G	ENSP00000380776.4:n.342-2A>G
ENST00000397659.8:c.342-2A>G	ENSP00000380779.4:n.342-2A>G
ENST00000464809.5:c.*100-2A>G	ENSP00000435027.1:n.*100-2A>G
ENST00000471804.6:c.342-2A>G	ENSP00000473903.1:n.342-2A>G
ENST00000478122.6:c.*100-2A>G	ENSP00000474208.1:n.*100-2A>G
ENST00000480648.5:c.342-2A>G	ENSP00000437196.1:n.342-2A>G
ENST00000481720.5:c.*178-2A>G	ENSP00000474291.1:n.*178-2A>G
ENST00000490514.5:c.*166-2A>G	ENSP00000436044.1:n.*166-2A>G
ENST00000495659.6:c.*100-2A>G	ENSP00000436673.2:n.*100-2A>G
ENST00000546643.1:c.221-2A>G	ENSP00000473743.1:n.221-2A>G
ENST00000547868.1:n.265-2A>G
ENST00000550703.6:c.342-2A>G	ENSP00000473789.1:n.342-2A>G
ENST00000551555.2:n.122-2A>G
ENST00000551590.5:c.342-2A>G	ENSP00000448735.1:n.342-2A>G
ENST00000552318.5:c.221-2A>G	ENSP00000474343.1:n.221-2A>G
ENST00000552762.5:n.122-2A>G
ENST00000614115.4:c.342-2A>G	ENSP00000484255.1:n.342-2A>G
NM_001082537.2:c.342-2A>G	NP_001076006.1:n.342-2A>G
NM_001082538.2:c.342-2A>G	NP_001076007.1:n.342-2A>G
NM_001173975.1:c.174-2A>G	NP_001167446.1:n.174-2A>G
NM_001173976.1:c.162-2A>G	NP_001167447.1:n.162-2A>G
NM_024549.5:c.342-2A>G	NP_078825.2:n.342-2A>G
XM_005253934.2:c.342-2A>G	XP_005253991.1:n.342-2A>G
XM_005253935.2:c.342-2A>G	XP_005253992.1:n.342-2A>G
XM_005253936.2:c.-366-2A>G	XP_005253993.1:n.-366-2A>G
XM_006719594.1:c.174-2A>G	XP_006719657.1:n.174-2A>G
XM_006719595.1:c.-193-2A>G	XP_006719658.1:n.-193-2A>G
XM_006719596.1:c.-366-2A>G	XP_006719659.1:n.-366-2A>G
XM_006719597.2:c.-193-2A>G	XP_006719660.1:n.-193-2A>G
XM_006719598.1:c.-336-2A>G	XP_006719661.1:n.-336-2A>G
XM_006719599.1:c.-163-2A>G	XP_006719662.1:n.-163-2A>G
XM_006719600.1:c.-163-2A>G	XP_006719663.1:n.-163-2A>G
XM_011538733.1:c.342-2A>G	XP_011537035.1:n.342-2A>G
XM_011538734.1:c.282-2A>G	XP_011537036.1:n.282-2A>G
XM_011538735.1:c.342-2A>G	XP_011537037.1:n.342-2A>G
XM_011538736.1:c.342-2A>G	XP_011537038.1:n.342-2A>G
XM_011538737.1:c.342-2A>G	XP_011537039.1:n.342-2A>G
XM_011538738.1:c.342-2A>G	XP_011537040.1:n.342-2A>G
XM_011538739.1:c.342-2A>G	XP_011537041.1:n.342-2A>G
XR_243021.2:n.402-2A>G
XR_243022.2:n.402-2A>G
XR_429116.1:n.402-2A>G
XR_944717.1:n.402-2A>G
NM_001173975.2:c.174-2A>G	NP_001167446.1:n.174-2A>G
NM_001319680.1:c.342-2A>G	NP_001306609.1:n.342-2A>G
NM_001319681.1:c.-366-2A>G	NP_001306610.1:n.-366-2A>G
NM_001319682.1:c.174-2A>G	NP_001306611.1:n.174-2A>G
NR_135088.1:n.559-2A>G
XM_005253934.4:c.342-2A>G	XP_005253991.1:n.342-2A>G
XM_005253935.4:c.342-2A>G	XP_005253992.1:n.342-2A>G
XM_006719594.3:c.174-2A>G	XP_006719657.1:n.174-2A>G
XM_006719595.3:c.-193-2A>G	XP_006719658.1:n.-193-2A>G
XM_006719596.3:c.-366-2A>G	XP_006719659.1:n.-366-2A>G
XM_006719597.4:c.-193-2A>G	XP_006719660.1:n.-193-2A>G
XM_006719598.3:c.-336-2A>G	XP_006719661.1:n.-336-2A>G
XM_006719599.3:c.-163-2A>G	XP_006719662.1:n.-163-2A>G
XM_006719600.3:c.-163-2A>G	XP_006719663.1:n.-163-2A>G
XM_011538733.3:c.342-2A>G	XP_011537035.1:n.342-2A>G
XM_011538734.3:c.282-2A>G	XP_011537036.1:n.282-2A>G
XM_011538735.2:c.342-2A>G	XP_011537037.1:n.342-2A>G
XM_011538737.3:c.342-2A>G	XP_011537039.1:n.342-2A>G
XM_011538738.3:c.342-2A>G	XP_011537040.1:n.342-2A>G
XM_017019964.1:c.174-2A>G	XP_016875453.1:n.174-2A>G
XM_017019966.2:c.-488-2A>G	XP_016875455.1:n.-488-2A>G
XM_017019968.2:c.-366-2A>G	XP_016875457.1:n.-366-2A>G
XM_017019969.2:c.-163-2A>G	XP_016875458.1:n.-163-2A>G
XR_243021.4:n.396-2A>G
XR_243022.4:n.396-2A>G
XR_429116.3:n.396-2A>G
XR_944717.3:n.396-2A>G
NM_001082537.3:c.342-2A>G	NP_001076006.1:n.342-2A>G
NM_001082538.3:c.342-2A>G MANE Select	NP_001076007.1:n.342-2A>G
NM_001173975.3:c.174-2A>G	NP_001167446.1:n.174-2A>G
NM_001173976.2:c.162-2A>G	NP_001167447.1:n.162-2A>G
NM_001319680.2:c.342-2A>G	NP_001306609.1:n.342-2A>G
NM_001319681.2:c.-366-2A>G	NP_001306610.1:n.-366-2A>G
NM_001319682.2:c.174-2A>G	NP_001306611.1:n.174-2A>G
NM_024549.6:c.342-2A>G	NP_078825.2:n.342-2A>G
NR_135088.2:n.457-2A>G
NM_001319682.3:c.174-2A>G	NP_001306611.1:n.174-2A>G