ENST00000396420.8:c.1633G>A
(POMGNT1)
|
ENSP00000379698.4:p.Val545Ile
|
|
ENST00000477114.2:n.2195G>A
(POMGNT1)
|
|
|
ENST00000497439.6:n.1805G>A
(POMGNT1)
|
|
|
ENST00000684817.1:n.1993G>A
(POMGNT1)
|
|
|
ENST00000684898.1:n.2195G>A
(POMGNT1)
|
|
|
ENST00000685230.1:c.*943G>A
(POMGNT1)
|
ENSP00000510305.1:n.*943G>A
|
|
ENST00000685275.1:n.2180G>A
(POMGNT1)
|
|
|
ENST00000685444.1:c.1534G>A
(POMGNT1)
|
ENSP00000510762.1:p.Val512Ile
|
|
ENST00000685704.1:n.2299G>A
(POMGNT1)
|
|
|
ENST00000685775.1:n.4675G>A
(POMGNT1)
|
|
|
ENST00000685833.1:n.4026G>A
(POMGNT1)
|
|
|
ENST00000686252.1:n.2707G>A
(POMGNT1)
|
|
|
ENST00000686379.1:c.*757G>A
(POMGNT1)
|
ENSP00000508913.1:n.*757G>A
|
|
ENST00000686724.1:n.3320G>A
(POMGNT1)
|
|
|
ENST00000686737.1:c.1633G>A
(POMGNT1)
|
ENSP00000508736.1:p.Val545Ile
|
|
ENST00000687112.1:n.2499G>A
(POMGNT1)
|
|
|
ENST00000687149.1:c.1672G>A
(POMGNT1)
|
ENSP00000509745.1:p.Val558Ile
|
|
ENST00000687197.1:c.*573G>A
(POMGNT1)
|
ENSP00000510749.1:n.*573G>A
|
|
ENST00000687235.1:n.3710G>A
(POMGNT1)
|
|
|
ENST00000687613.1:n.2290-500G>A
(POMGNT1)
|
|
|
ENST00000687683.1:c.1633G>A
(POMGNT1)
|
ENSP00000508522.1:p.Val545Ile
|
|
ENST00000688032.1:n.2170G>A
(POMGNT1)
|
|
|
ENST00000688596.1:n.2284G>A
(POMGNT1)
|
|
|
ENST00000688608.1:c.1534G>A
(POMGNT1)
|
ENSP00000508890.1:p.Val512Ile
|
|
ENST00000688919.1:n.3031G>A
(POMGNT1)
|
|
|
ENST00000689031.1:n.2102-500G>A
(POMGNT1)
|
|
|
ENST00000689717.1:n.2007G>A
(POMGNT1)
|
|
|
ENST00000689756.1:c.*1265G>A
(POMGNT1)
|
ENSP00000509023.1:n.*1265G>A
|
|
ENST00000690377.1:n.1980G>A
(POMGNT1)
|
|
|
ENST00000690678.1:c.1633G>A
(POMGNT1)
|
ENSP00000508703.1:p.Val545Ile
|
|
ENST00000691209.1:c.*573G>A
(POMGNT1)
|
ENSP00000510112.1:n.*573G>A
|
|
ENST00000691243.1:c.*24G>A
(POMGNT1)
|
ENSP00000510654.1:n.*24G>A
|
|
ENST00000692169.1:n.3297G>A
(POMGNT1)
|
|
|
ENST00000692202.1:n.2208G>A
(POMGNT1)
|
|
|
ENST00000692322.1:c.*1420G>A
(POMGNT1)
|
ENSP00000509017.1:n.*1420G>A
|
|
ENST00000692369.1:c.1633G>A
(POMGNT1)
|
ENSP00000508453.1:p.Val545Ile
|
|
ENST00000692599.1:n.3508G>A
(POMGNT1)
|
|
|
ENST00000692635.1:c.*508G>A
(POMGNT1)
|
ENSP00000508425.1:n.*508G>A
|
|
ENST00000693168.1:n.3409G>A
(POMGNT1)
|
|
|
ENST00000693218.1:c.*194G>A
(POMGNT1)
|
ENSP00000510577.1:n.*194G>A
|
|
ENST00000693223.1:n.2581G>A
(POMGNT1)
|
|
|
ENST00000693365.1:n.5782G>A
(POMGNT1)
|
|
|
ENST00000371984.8:c.1633G>A
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Val545Ile
|
|
ENST00000371984.7:c.1633G>A
(POMGNT1)
|
ENSP00000361052.3:p.Val545Ile
|
|
ENST00000371992.1:c.1633G>A
(POMGNT1)
|
ENSP00000361060.1:p.Val545Ile
|
|
ENST00000396420.7:c.*1302G>A
(POMGNT1)
|
ENSP00000379698.3:n.*1302G>A
|
|
ENST00000480972.1:n.282G>A
(POMGNT1)
|
|
|
ENST00000485714.1:n.2534G>A
(POMGNT1)
|
|
|
NM_001243766.1:c.1633G>A
(POMGNT1)
|
NP_001230695.1:p.Val545Ile
|
|
NM_001290129.1:c.1567G>A
(POMGNT1)
|
NP_001277058.1:p.Val523Ile
|
|
NM_001290130.1:c.1204G>A
(POMGNT1)
|
NP_001277059.1:p.Val402Ile
|
|
NM_017739.3:c.1633G>A
(POMGNT1)
|
NP_060209.3:p.Val545Ile
|
|
XM_005271010.1:c.1633G>A
(POMGNT1)
|
XP_005271067.1:p.Val545Ile
|
|
XM_006710755.1:c.1633G>A
(POMGNT1)
|
XP_006710818.1:p.Val545Ile
|
|
XM_006710756.1:c.1633G>A
(POMGNT1)
|
XP_006710819.1:p.Val545Ile
|
|
XM_011540460.1:c.678+5181C>T
(TSPAN1)
|
XP_011538762.1:n.678+5181C>T
|
|
XM_011540461.1:c.633+5181C>T
(TSPAN1)
|
XP_011538763.1:n.633+5181C>T
|
|
XM_011541759.1:c.1567G>A
(POMGNT1)
|
XP_011540061.1:p.Val523Ile
|
|
XM_011541760.1:c.1567G>A
(POMGNT1)
|
XP_011540062.1:p.Val523Ile
|
|
XM_011541761.1:c.541G>A
(POMGNT1)
|
XP_011540063.1:p.Val181Ile
|
|
XM_011540460.3:c.678+5181C>T
(TSPAN1)
|
XP_011538762.1:n.678+5181C>T
|
|
XM_011541760.3:c.1567G>A
(POMGNT1)
|
XP_011540062.1:p.Val523Ile
|
|
XM_017001690.1:c.1633G>A
(POMGNT1)
|
XP_016857179.1:p.Val545Ile
|
|
NM_001243766.2:c.1633G>A
(POMGNT1)
|
NP_001230695.2:p.Val545Ile
|
|
NM_001290129.2:c.1567G>A
(POMGNT1)
|
NP_001277058.2:p.Val523Ile
|
|
NM_001290130.2:c.1204G>A
(POMGNT1)
|
NP_001277059.2:p.Val402Ile
|
|
NM_017739.4:c.1633G>A
(POMGNT1)
MANE Select
|
NP_060209.4:p.Val545Ile
|
|