|
ENST00000396420.8:c.1688A>C
(POMGNT1)
|
ENSP00000379698.4:p.Glu563Ala
|
|
|
ENST00000497439.6:n.1860A>C
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.2048A>C
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.2250A>C
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*998A>C
(POMGNT1)
|
ENSP00000510305.1:n.*998A>C
|
|
|
ENST00000685275.1:n.2235A>C
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1589A>C
(POMGNT1)
|
ENSP00000510762.1:p.Glu530Ala
|
|
|
ENST00000685704.1:n.2354A>C
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.4081A>C
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2762A>C
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*812A>C
(POMGNT1)
|
ENSP00000508913.1:n.*812A>C
|
|
|
ENST00000686724.1:n.3375A>C
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1688A>C
(POMGNT1)
|
ENSP00000508736.1:p.Glu563Ala
|
|
|
ENST00000687112.1:n.2554A>C
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1727A>C
(POMGNT1)
|
ENSP00000509745.1:p.Glu576Ala
|
|
|
ENST00000687197.1:c.*628A>C
(POMGNT1)
|
ENSP00000510749.1:n.*628A>C
|
|
|
ENST00000687235.1:n.3765A>C
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2328A>C
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1688A>C
(POMGNT1)
|
ENSP00000508522.1:p.Glu563Ala
|
|
|
ENST00000688032.1:n.2225A>C
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2339A>C
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1589A>C
(POMGNT1)
|
ENSP00000508890.1:p.Glu530Ala
|
|
|
ENST00000689031.1:n.2140A>C
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*1320A>C
(POMGNT1)
|
ENSP00000509023.1:n.*1320A>C
|
|
|
ENST00000690377.1:n.2035A>C
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1688A>C
(POMGNT1)
|
ENSP00000508703.1:p.Glu563Ala
|
|
|
ENST00000691209.1:c.*628A>C
(POMGNT1)
|
ENSP00000510112.1:n.*628A>C
|
|
|
ENST00000691243.1:c.*79A>C
(POMGNT1)
|
ENSP00000510654.1:n.*79A>C
|
|
|
ENST00000692202.1:n.2263A>C
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1475A>C
(POMGNT1)
|
ENSP00000509017.1:n.*1475A>C
|
|
|
ENST00000692369.1:c.1688A>C
(POMGNT1)
|
ENSP00000508453.1:p.Glu563Ala
|
|
|
ENST00000692599.1:n.3563A>C
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*563A>C
(POMGNT1)
|
ENSP00000508425.1:n.*563A>C
|
|
|
ENST00000693168.1:n.3464A>C
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.*249A>C
(POMGNT1)
|
ENSP00000510577.1:n.*249A>C
|
|
|
ENST00000693223.1:n.2636A>C
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1688A>C
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Glu563Ala
|
|
|
ENST00000371984.7:c.1688A>C
(POMGNT1)
|
ENSP00000361052.3:p.Glu563Ala
|
|
|
ENST00000371992.1:c.1688A>C
(POMGNT1)
|
ENSP00000361060.1:p.Glu563Ala
|
|
|
ENST00000396420.7:c.*1357A>C
(POMGNT1)
|
ENSP00000379698.3:n.*1357A>C
|
|
|
ENST00000480972.1:n.337A>C
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1688A>C
(POMGNT1)
|
NP_001230695.1:p.Glu563Ala
|
|
|
NM_001290129.1:c.1622A>C
(POMGNT1)
|
NP_001277058.1:p.Glu541Ala
|
|
|
NM_001290130.1:c.1259A>C
(POMGNT1)
|
NP_001277059.1:p.Glu420Ala
|
|
|
NM_017739.3:c.1688A>C
(POMGNT1)
|
NP_060209.3:p.Glu563Ala
|
|
|
XM_005271010.1:c.1688A>C
(POMGNT1)
|
XP_005271067.1:p.Glu563Ala
|
|
|
XM_006710755.1:c.1688A>C
(POMGNT1)
|
XP_006710818.1:p.Glu563Ala
|
|
|
XM_006710756.1:c.1688A>C
(POMGNT1)
|
XP_006710819.1:p.Glu563Ala
|
|
|
XM_011540460.1:c.678+4643T>G
(TSPAN1)
|
XP_011538762.1:n.678+4643T>G
|
|
|
XM_011540461.1:c.633+4643T>G
(TSPAN1)
|
XP_011538763.1:n.633+4643T>G
|
|
|
XM_011541759.1:c.1622A>C
(POMGNT1)
|
XP_011540061.1:p.Glu541Ala
|
|
|
XM_011541760.1:c.1622A>C
(POMGNT1)
|
XP_011540062.1:p.Glu541Ala
|
|
|
XM_011541761.1:c.596A>C
(POMGNT1)
|
XP_011540063.1:p.Glu199Ala
|
|
|
XM_011540460.3:c.678+4643T>G
(TSPAN1)
|
XP_011538762.1:n.678+4643T>G
|
|
|
XM_011541760.3:c.1622A>C
(POMGNT1)
|
XP_011540062.1:p.Glu541Ala
|
|
|
XM_017001690.1:c.1688A>C
(POMGNT1)
|
XP_016857179.1:p.Glu563Ala
|
|
|
NM_001243766.2:c.1688A>C
(POMGNT1)
|
NP_001230695.2:p.Glu563Ala
|
|
|
NM_001290129.2:c.1622A>C
(POMGNT1)
|
NP_001277058.2:p.Glu541Ala
|
|
|
NM_001290130.2:c.1259A>C
(POMGNT1)
|
NP_001277059.2:p.Glu420Ala
|
|
|
NM_017739.4:c.1688A>C
(POMGNT1)
MANE Select
|
NP_060209.4:p.Glu563Ala
|
|
