|
ENST00000396420.8:c.1776G>C
(POMGNT1)
|
ENSP00000379698.4:p.Gln592His
|
|
|
ENST00000497439.6:n.1948G>C
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.2136G>C
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.2338G>C
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*1086G>C
(POMGNT1)
|
ENSP00000510305.1:n.*1086G>C
|
|
|
ENST00000685275.1:n.2323G>C
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1677G>C
(POMGNT1)
|
ENSP00000510762.1:p.Gln559His
|
|
|
ENST00000685704.1:n.2442G>C
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.4169G>C
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2850G>C
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*900G>C
(POMGNT1)
|
ENSP00000508913.1:n.*900G>C
|
|
|
ENST00000686724.1:n.3463G>C
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1776G>C
(POMGNT1)
|
ENSP00000508736.1:p.Gln592His
|
|
|
ENST00000687112.1:n.2642G>C
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1815G>C
(POMGNT1)
|
ENSP00000509745.1:p.Gln605His
|
|
|
ENST00000687197.1:c.*716G>C
(POMGNT1)
|
ENSP00000510749.1:n.*716G>C
|
|
|
ENST00000687235.1:n.3853G>C
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2416G>C
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1776G>C
(POMGNT1)
|
ENSP00000508522.1:p.Gln592His
|
|
|
ENST00000688032.1:n.2313G>C
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2427G>C
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1677G>C
(POMGNT1)
|
ENSP00000508890.1:p.Gln559His
|
|
|
ENST00000689031.1:n.2228G>C
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*1408G>C
(POMGNT1)
|
ENSP00000509023.1:n.*1408G>C
|
|
|
ENST00000690377.1:n.2123G>C
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1776G>C
(POMGNT1)
|
ENSP00000508703.1:p.Gln592His
|
|
|
ENST00000691209.1:c.*716G>C
(POMGNT1)
|
ENSP00000510112.1:n.*716G>C
|
|
|
ENST00000691243.1:c.*167G>C
(POMGNT1)
|
ENSP00000510654.1:n.*167G>C
|
|
|
ENST00000692202.1:n.2351G>C
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1563G>C
(POMGNT1)
|
ENSP00000509017.1:n.*1563G>C
|
|
|
ENST00000692369.1:c.1776G>C
(POMGNT1)
|
ENSP00000508453.1:p.Gln592His
|
|
|
ENST00000692599.1:n.3651G>C
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*651G>C
(POMGNT1)
|
ENSP00000508425.1:n.*651G>C
|
|
|
ENST00000693168.1:n.3552G>C
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.*337G>C
(POMGNT1)
|
ENSP00000510577.1:n.*337G>C
|
|
|
ENST00000693223.1:n.2724G>C
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1776G>C
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Gln592His
|
|
|
ENST00000371984.7:c.1776G>C
(POMGNT1)
|
ENSP00000361052.3:p.Gln592His
|
|
|
ENST00000371992.1:c.1776G>C
(POMGNT1)
|
ENSP00000361060.1:p.Gln592His
|
|
|
ENST00000396420.7:c.*1445G>C
(POMGNT1)
|
ENSP00000379698.3:n.*1445G>C
|
|
|
ENST00000480972.1:n.425G>C
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1776G>C
(POMGNT1)
|
NP_001230695.1:p.Gln592His
|
|
|
NM_001290129.1:c.1710G>C
(POMGNT1)
|
NP_001277058.1:p.Gln570His
|
|
|
NM_001290130.1:c.1347G>C
(POMGNT1)
|
NP_001277059.1:p.Gln449His
|
|
|
NM_017739.3:c.1776G>C
(POMGNT1)
|
NP_060209.3:p.Gln592His
|
|
|
XM_005271010.1:c.1776G>C
(POMGNT1)
|
XP_005271067.1:p.Gln592His
|
|
|
XM_006710755.1:c.1776G>C
(POMGNT1)
|
XP_006710818.1:p.Gln592His
|
|
|
XM_006710756.1:c.1776G>C
(POMGNT1)
|
XP_006710819.1:p.Gln592His
|
|
|
XM_011540460.1:c.678+4555C>G
(TSPAN1)
|
XP_011538762.1:n.678+4555C>G
|
|
|
XM_011540461.1:c.633+4555C>G
(TSPAN1)
|
XP_011538763.1:n.633+4555C>G
|
|
|
XM_011541759.1:c.1710G>C
(POMGNT1)
|
XP_011540061.1:p.Gln570His
|
|
|
XM_011541760.1:c.1710G>C
(POMGNT1)
|
XP_011540062.1:p.Gln570His
|
|
|
XM_011541761.1:c.684G>C
(POMGNT1)
|
XP_011540063.1:p.Gln228His
|
|
|
XM_011540460.3:c.678+4555C>G
(TSPAN1)
|
XP_011538762.1:n.678+4555C>G
|
|
|
XM_011541760.3:c.1710G>C
(POMGNT1)
|
XP_011540062.1:p.Gln570His
|
|
|
XM_017001690.1:c.1776G>C
(POMGNT1)
|
XP_016857179.1:p.Gln592His
|
|
|
NM_001243766.2:c.1776G>C
(POMGNT1)
|
NP_001230695.2:p.Gln592His
|
|
|
NM_001290129.2:c.1710G>C
(POMGNT1)
|
NP_001277058.2:p.Gln570His
|
|
|
NM_001290130.2:c.1347G>C
(POMGNT1)
|
NP_001277059.2:p.Gln449His
|
|
|
NM_017739.4:c.1776G>C
(POMGNT1)
MANE Select
|
NP_060209.4:p.Gln592His
|
|
