Canonical Allele Identifier: CA386701544
Community Standard Title: NM_001082538.3(TCTN1):c.344G>A (p.Gly115Asp)
Gene: TCTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110626364G>A , CM000674.2:g.110626364G>A GRCh38
NC_000012.11:g.111064169G>A , CM000674.1:g.111064169G>A GRCh37
NC_000012.10:g.109548552G>A NCBI36
NG_030381.1:g.17338G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001082538.3:c.344G>A MANE Select NP_001076007.1:p.Gly115Asp
ENST00000397659.9:c.344G>A MANE Select ENSP00000380779.4:p.Gly115Asp
NM_001082537.2:c.344G>A NP_001076006.1:p.Gly115Asp
NM_001082537.3:c.344G>A NP_001076006.1:p.Gly115Asp
NM_001082538.2:c.344G>A NP_001076007.1:p.Gly115Asp
NM_001173975.1:c.176G>A NP_001167446.1:p.Gly59Asp
NM_001173975.2:c.176G>A NP_001167446.1:p.Gly59Asp
NM_001173975.3:c.176G>A NP_001167446.1:p.Gly59Asp
NM_001173976.1:c.164G>A NP_001167447.1:p.Gly55Asp
NM_001173976.2:c.164G>A NP_001167447.1:p.Gly55Asp
NM_001319680.1:c.344G>A NP_001306609.1:p.Gly115Asp
NM_001319680.2:c.344G>A NP_001306609.1:p.Gly115Asp
NM_001319681.1:c.-364G>A NP_001306610.1:n.-364G>A
NM_001319681.2:c.-364G>A NP_001306610.1:n.-364G>A
NM_001319682.1:c.176G>A NP_001306611.1:p.Gly59Asp
NM_001319682.2:c.176G>A NP_001306611.1:p.Gly59Asp
NM_001319682.3:c.176G>A NP_001306611.1:p.Gly59Asp
NM_024549.5:c.344G>A NP_078825.2:p.Gly115Asp
NM_024549.6:c.344G>A NP_078825.2:p.Gly115Asp
NR_135088.1:n.561G>A
NR_135088.2:n.459G>A
ENST00000377654.4:c.164G>A ENSP00000366882.4:p.Gly55Asp
ENST00000377654.5:c.344G>A ENSP00000366882.5:p.Gly115Asp
ENST00000397655.7:c.344G>A ENSP00000380775.3:p.Gly115Asp
ENST00000397656.8:c.344G>A ENSP00000380776.4:p.Gly115Asp
ENST00000397659.8:c.344G>A ENSP00000380779.4:p.Gly115Asp
ENST00000464809.5:c.*102G>A ENSP00000435027.1:n.*102G>A
ENST00000471804.6:c.344G>A ENSP00000473903.1:p.Gly115Asp
ENST00000471804.7:c.344G>A ENSP00000473903.2:p.Gly115Asp
ENST00000478122.6:c.*102G>A ENSP00000474208.1:n.*102G>A
ENST00000480648.5:c.344G>A ENSP00000437196.1:p.Gly115Asp
ENST00000481720.5:c.*180G>A ENSP00000474291.1:n.*180G>A
ENST00000490514.5:c.*168G>A ENSP00000436044.1:n.*168G>A
ENST00000495659.6:c.*102G>A ENSP00000436673.2:n.*102G>A
ENST00000546643.1:c.223G>A ENSP00000473743.1:p.Ala75Thr
ENST00000547461.3:c.344G>A ENSP00000448188.3:p.Gly115Asp
ENST00000547868.1:n.267G>A
ENST00000549123.6:c.344G>A ENSP00000450154.2:p.Gly115Asp
ENST00000550703.6:c.344G>A ENSP00000473789.1:p.Gly115Asp
ENST00000551555.2:n.124G>A
ENST00000551555.3:n.397G>A
ENST00000551590.5:c.344G>A ENSP00000448735.1:p.Gly115Asp
ENST00000552038.6:n.414G>A
ENST00000552318.5:c.223G>A ENSP00000474343.1:p.Ala75Thr
ENST00000552762.5:n.124G>A
ENST00000614115.4:c.344G>A ENSP00000484255.1:p.Gly115Asp
ENST00000614115.5:c.344G>A ENSP00000484255.2:p.Gly115Asp
ENST00000679401.1:c.284G>A ENSP00000506277.1:p.Gly95Asp
ENST00000679473.1:c.344G>A ENSP00000504983.1:p.Gly115Asp
ENST00000679617.1:c.223G>A ENSP00000506626.1:p.Ala75Thr
ENST00000679713.1:c.344G>A ENSP00000504975.1:p.Gly115Asp
ENST00000680068.1:c.*168G>A ENSP00000506300.1:n.*168G>A
ENST00000680203.1:c.344G>A ENSP00000505195.1:p.Gly115Asp
ENST00000680445.1:c.344G>A ENSP00000505462.1:p.Gly115Asp
ENST00000680512.1:c.223G>A ENSP00000505935.1:p.Ala75Thr
ENST00000680548.1:c.*31G>A ENSP00000505310.1:n.*31G>A
ENST00000680571.1:n.390G>A
ENST00000681395.1:c.223G>A ENSP00000505886.1:p.Ala75Thr
ENST00000681437.1:c.344G>A ENSP00000505004.1:p.Gly115Asp
ENST00000681604.1:c.*168G>A ENSP00000505920.1:n.*168G>A
ENST00000681740.1:n.390G>A
ENST00000681807.1:c.*168G>A ENSP00000505236.1:n.*168G>A
ENST00000681851.1:c.344G>A ENSP00000505956.1:p.Gly115Asp
XM_005253934.2:c.344G>A XP_005253991.1:p.Gly115Asp
XM_005253934.4:c.344G>A XP_005253991.1:p.Gly115Asp
XM_005253935.2:c.344G>A XP_005253992.1:p.Gly115Asp
XM_005253935.4:c.344G>A XP_005253992.1:p.Gly115Asp
XM_005253936.2:c.-364G>A XP_005253993.1:n.-364G>A
XM_006719594.1:c.176G>A XP_006719657.1:p.Gly59Asp
XM_006719594.3:c.176G>A XP_006719657.1:p.Gly59Asp
XM_006719595.1:c.-191G>A XP_006719658.1:n.-191G>A
XM_006719595.3:c.-191G>A XP_006719658.1:n.-191G>A
XM_006719596.1:c.-364G>A XP_006719659.1:n.-364G>A
XM_006719596.3:c.-364G>A XP_006719659.1:n.-364G>A
XM_006719597.2:c.-191G>A XP_006719660.1:n.-191G>A
XM_006719597.4:c.-191G>A XP_006719660.1:n.-191G>A
XM_006719598.1:c.-334G>A XP_006719661.1:n.-334G>A
XM_006719598.3:c.-334G>A XP_006719661.1:n.-334G>A
XM_006719599.1:c.-161G>A XP_006719662.1:n.-161G>A
XM_006719599.3:c.-161G>A XP_006719662.1:n.-161G>A
XM_006719600.1:c.-161G>A XP_006719663.1:n.-161G>A
XM_006719600.3:c.-161G>A XP_006719663.1:n.-161G>A
XM_011538733.1:c.344G>A XP_011537035.1:p.Gly115Asp
XM_011538733.3:c.344G>A XP_011537035.1:p.Gly115Asp
XM_011538734.1:c.284G>A XP_011537036.1:p.Gly95Asp
XM_011538734.3:c.284G>A XP_011537036.1:p.Gly95Asp
XM_011538735.1:c.344G>A XP_011537037.1:p.Gly115Asp
XM_011538735.2:c.344G>A XP_011537037.1:p.Gly115Asp
XM_011538736.1:c.344G>A XP_011537038.1:p.Gly115Asp
XM_011538737.1:c.344G>A XP_011537039.1:p.Gly115Asp
XM_011538737.3:c.344G>A XP_011537039.1:p.Gly115Asp
XM_011538738.1:c.344G>A XP_011537040.1:p.Gly115Asp
XM_011538738.3:c.344G>A XP_011537040.1:p.Gly115Asp
XM_011538739.1:c.344G>A XP_011537041.1:p.Gly115Asp
XM_017019964.1:c.176G>A XP_016875453.1:p.Gly59Asp
XM_017019966.2:c.-486G>A XP_016875455.1:n.-486G>A
XM_017019968.2:c.-364G>A XP_016875457.1:n.-364G>A
XM_017019969.2:c.-161G>A XP_016875458.1:n.-161G>A
XR_243021.2:n.404G>A
XR_243021.4:n.398G>A
XR_243022.2:n.404G>A
XR_243022.4:n.398G>A
XR_429116.1:n.404G>A
XR_429116.3:n.398G>A
XR_944717.1:n.404G>A
XR_944717.3:n.398G>A