|
ENST00000396420.8:c.1451A>T
(POMGNT1)
|
ENSP00000379698.4:p.Gln484Leu
|
|
|
ENST00000477114.2:n.2013A>T
(POMGNT1)
|
|
|
|
ENST00000497439.6:n.1623A>T
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.1811A>T
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.2013A>T
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*761A>T
(POMGNT1)
|
ENSP00000510305.1:n.*761A>T
|
|
|
ENST00000685275.1:n.1998A>T
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1352A>T
(POMGNT1)
|
ENSP00000510762.1:p.Gln451Leu
|
|
|
ENST00000685704.1:n.2013A>T
(POMGNT1)
|
|
|
|
ENST00000685775.1:n.2978A>T
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.2329A>T
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2525A>T
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*575A>T
(POMGNT1)
|
ENSP00000508913.1:n.*575A>T
|
|
|
ENST00000686724.1:n.1623A>T
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1451A>T
(POMGNT1)
|
ENSP00000508736.1:p.Gln484Leu
|
|
|
ENST00000687112.1:n.2317A>T
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1451A>T
(POMGNT1)
|
ENSP00000509745.1:p.Gln484Leu
|
|
|
ENST00000687197.1:c.*391A>T
(POMGNT1)
|
ENSP00000510749.1:n.*391A>T
|
|
|
ENST00000687235.1:n.2013A>T
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2201A>T
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1451A>T
(POMGNT1)
|
ENSP00000508522.1:p.Gln484Leu
|
|
|
ENST00000688032.1:n.2013A>T
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2102A>T
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1352A>T
(POMGNT1)
|
ENSP00000508890.1:p.Gln451Leu
|
|
|
ENST00000688919.1:n.2647A>T
(POMGNT1)
|
|
|
|
ENST00000689031.1:n.2013A>T
(POMGNT1)
|
|
|
|
ENST00000689717.1:n.1623A>T
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*1083A>T
(POMGNT1)
|
ENSP00000509023.1:n.*1083A>T
|
|
|
ENST00000690377.1:n.1798A>T
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1451A>T
(POMGNT1)
|
ENSP00000508703.1:p.Gln484Leu
|
|
|
ENST00000691209.1:c.*391A>T
(POMGNT1)
|
ENSP00000510112.1:n.*391A>T
|
|
|
ENST00000691243.1:c.1451A>T
(POMGNT1)
|
ENSP00000510654.1:p.Gln484Leu
|
|
|
ENST00000692169.1:n.1600A>T
(POMGNT1)
|
|
|
|
ENST00000692202.1:n.2026A>T
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1303A>T
(POMGNT1)
|
ENSP00000509017.1:n.*1303A>T
|
|
|
ENST00000692369.1:c.1451A>T
(POMGNT1)
|
ENSP00000508453.1:p.Gln484Leu
|
|
|
ENST00000692599.1:n.2013A>T
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*391A>T
(POMGNT1)
|
ENSP00000508425.1:n.*391A>T
|
|
|
ENST00000693168.1:n.1712A>T
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.1451A>T
(POMGNT1)
|
ENSP00000510577.1:p.Gln484Leu
|
|
|
ENST00000693223.1:n.2399A>T
(POMGNT1)
|
|
|
|
ENST00000693365.1:n.4085A>T
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1451A>T
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Gln484Leu
|
|
|
ENST00000371984.7:c.1451A>T
(POMGNT1)
|
ENSP00000361052.3:p.Gln484Leu
|
|
|
ENST00000371992.1:c.1451A>T
(POMGNT1)
|
ENSP00000361060.1:p.Gln484Leu
|
|
|
ENST00000396420.7:c.*1120A>T
(POMGNT1)
|
ENSP00000379698.3:n.*1120A>T
|
|
|
ENST00000463030.1:n.72A>T
(POMGNT1)
|
|
|
|
ENST00000485714.1:n.837A>T
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1451A>T
(POMGNT1)
|
NP_001230695.1:p.Gln484Leu
|
|
|
NM_001290129.1:c.1385A>T
(POMGNT1)
|
NP_001277058.1:p.Gln462Leu
|
|
|
NM_001290130.1:c.1022A>T
(POMGNT1)
|
NP_001277059.1:p.Gln341Leu
|
|
|
NM_017739.3:c.1451A>T
(POMGNT1)
|
NP_060209.3:p.Gln484Leu
|
|
|
XM_005271010.1:c.1451A>T
(POMGNT1)
|
XP_005271067.1:p.Gln484Leu
|
|
|
XM_006710755.1:c.1451A>T
(POMGNT1)
|
XP_006710818.1:p.Gln484Leu
|
|
|
XM_006710756.1:c.1451A>T
(POMGNT1)
|
XP_006710819.1:p.Gln484Leu
|
|
|
XM_011540460.1:c.679-4016T>A
(TSPAN1)
|
XP_011538762.1:n.679-4016T>A
|
|
|
XM_011540461.1:c.634-4016T>A
(TSPAN1)
|
XP_011538763.1:n.634-4016T>A
|
|
|
XM_011541759.1:c.1385A>T
(POMGNT1)
|
XP_011540061.1:p.Gln462Leu
|
|
|
XM_011541760.1:c.1385A>T
(POMGNT1)
|
XP_011540062.1:p.Gln462Leu
|
|
|
XM_011541761.1:c.359A>T
(POMGNT1)
|
XP_011540063.1:p.Gln120Leu
|
|
|
XR_946706.1:n.1611A>T
(POMGNT1)
|
|
|
|
XM_011540460.3:c.679-4016T>A
(TSPAN1)
|
XP_011538762.1:n.679-4016T>A
|
|
|
XM_011541760.3:c.1385A>T
(POMGNT1)
|
XP_011540062.1:p.Gln462Leu
|
|
|
XM_017001690.1:c.1451A>T
(POMGNT1)
|
XP_016857179.1:p.Gln484Leu
|
|
|
NM_001243766.2:c.1451A>T
(POMGNT1)
|
NP_001230695.2:p.Gln484Leu
|
|
|
NM_001290129.2:c.1385A>T
(POMGNT1)
|
NP_001277058.2:p.Gln462Leu
|
|
|
NM_001290130.2:c.1022A>T
(POMGNT1)
|
NP_001277059.2:p.Gln341Leu
|
|
|
NM_017739.4:c.1451A>T
(POMGNT1)
MANE Select
|
NP_060209.4:p.Gln484Leu
|
|
