|
ENST00000396420.8:c.1651G>C
(POMGNT1)
|
ENSP00000379698.4:p.Glu551Gln
|
|
|
ENST00000497439.6:n.1823G>C
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.2011G>C
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.2213G>C
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*961G>C
(POMGNT1)
|
ENSP00000510305.1:n.*961G>C
|
|
|
ENST00000685275.1:n.2198G>C
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1552G>C
(POMGNT1)
|
ENSP00000510762.1:p.Glu518Gln
|
|
|
ENST00000685704.1:n.2317G>C
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.4044G>C
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2725G>C
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*775G>C
(POMGNT1)
|
ENSP00000508913.1:n.*775G>C
|
|
|
ENST00000686724.1:n.3338G>C
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1651G>C
(POMGNT1)
|
ENSP00000508736.1:p.Glu551Gln
|
|
|
ENST00000687112.1:n.2517G>C
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1690G>C
(POMGNT1)
|
ENSP00000509745.1:p.Glu564Gln
|
|
|
ENST00000687197.1:c.*591G>C
(POMGNT1)
|
ENSP00000510749.1:n.*591G>C
|
|
|
ENST00000687235.1:n.3728G>C
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2291G>C
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1651G>C
(POMGNT1)
|
ENSP00000508522.1:p.Glu551Gln
|
|
|
ENST00000688032.1:n.2188G>C
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2302G>C
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1552G>C
(POMGNT1)
|
ENSP00000508890.1:p.Glu518Gln
|
|
|
ENST00000689031.1:n.2103G>C
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*1283G>C
(POMGNT1)
|
ENSP00000509023.1:n.*1283G>C
|
|
|
ENST00000690377.1:n.1998G>C
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1651G>C
(POMGNT1)
|
ENSP00000508703.1:p.Glu551Gln
|
|
|
ENST00000691209.1:c.*591G>C
(POMGNT1)
|
ENSP00000510112.1:n.*591G>C
|
|
|
ENST00000691243.1:c.*42G>C
(POMGNT1)
|
ENSP00000510654.1:n.*42G>C
|
|
|
ENST00000692202.1:n.2226G>C
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1438G>C
(POMGNT1)
|
ENSP00000509017.1:n.*1438G>C
|
|
|
ENST00000692369.1:c.1651G>C
(POMGNT1)
|
ENSP00000508453.1:p.Glu551Gln
|
|
|
ENST00000692599.1:n.3526G>C
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*526G>C
(POMGNT1)
|
ENSP00000508425.1:n.*526G>C
|
|
|
ENST00000693168.1:n.3427G>C
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.*212G>C
(POMGNT1)
|
ENSP00000510577.1:n.*212G>C
|
|
|
ENST00000693223.1:n.2599G>C
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1651G>C
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Glu551Gln
|
|
|
ENST00000371984.7:c.1651G>C
(POMGNT1)
|
ENSP00000361052.3:p.Glu551Gln
|
|
|
ENST00000371992.1:c.1651G>C
(POMGNT1)
|
ENSP00000361060.1:p.Glu551Gln
|
|
|
ENST00000396420.7:c.*1320G>C
(POMGNT1)
|
ENSP00000379698.3:n.*1320G>C
|
|
|
ENST00000480972.1:n.300G>C
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1651G>C
(POMGNT1)
|
NP_001230695.1:p.Glu551Gln
|
|
|
NM_001290129.1:c.1585G>C
(POMGNT1)
|
NP_001277058.1:p.Glu529Gln
|
|
|
NM_001290130.1:c.1222G>C
(POMGNT1)
|
NP_001277059.1:p.Glu408Gln
|
|
|
NM_017739.3:c.1651G>C
(POMGNT1)
|
NP_060209.3:p.Glu551Gln
|
|
|
XM_005271010.1:c.1651G>C
(POMGNT1)
|
XP_005271067.1:p.Glu551Gln
|
|
|
XM_006710755.1:c.1651G>C
(POMGNT1)
|
XP_006710818.1:p.Glu551Gln
|
|
|
XM_006710756.1:c.1651G>C
(POMGNT1)
|
XP_006710819.1:p.Glu551Gln
|
|
|
XM_011540460.1:c.678+4680C>G
(TSPAN1)
|
XP_011538762.1:n.678+4680C>G
|
|
|
XM_011540461.1:c.633+4680C>G
(TSPAN1)
|
XP_011538763.1:n.633+4680C>G
|
|
|
XM_011541759.1:c.1585G>C
(POMGNT1)
|
XP_011540061.1:p.Glu529Gln
|
|
|
XM_011541760.1:c.1585G>C
(POMGNT1)
|
XP_011540062.1:p.Glu529Gln
|
|
|
XM_011541761.1:c.559G>C
(POMGNT1)
|
XP_011540063.1:p.Glu187Gln
|
|
|
XM_011540460.3:c.678+4680C>G
(TSPAN1)
|
XP_011538762.1:n.678+4680C>G
|
|
|
XM_011541760.3:c.1585G>C
(POMGNT1)
|
XP_011540062.1:p.Glu529Gln
|
|
|
XM_017001690.1:c.1651G>C
(POMGNT1)
|
XP_016857179.1:p.Glu551Gln
|
|
|
NM_001243766.2:c.1651G>C
(POMGNT1)
|
NP_001230695.2:p.Glu551Gln
|
|
|
NM_001290129.2:c.1585G>C
(POMGNT1)
|
NP_001277058.2:p.Glu529Gln
|
|
|
NM_001290130.2:c.1222G>C
(POMGNT1)
|
NP_001277059.2:p.Glu408Gln
|
|
|
NM_017739.4:c.1651G>C
(POMGNT1)
MANE Select
|
NP_060209.4:p.Glu551Gln
|
|
