ENST00000396420.8:c.1726G>T
(POMGNT1)
|
ENSP00000379698.4:p.Val576Leu
|
|
ENST00000497439.6:n.1898G>T
(POMGNT1)
|
|
|
ENST00000684817.1:n.2086G>T
(POMGNT1)
|
|
|
ENST00000684898.1:n.2288G>T
(POMGNT1)
|
|
|
ENST00000685230.1:c.*1036G>T
(POMGNT1)
|
ENSP00000510305.1:n.*1036G>T
|
|
ENST00000685275.1:n.2273G>T
(POMGNT1)
|
|
|
ENST00000685444.1:c.1627G>T
(POMGNT1)
|
ENSP00000510762.1:p.Val543Leu
|
|
ENST00000685704.1:n.2392G>T
(POMGNT1)
|
|
|
ENST00000685833.1:n.4119G>T
(POMGNT1)
|
|
|
ENST00000686252.1:n.2800G>T
(POMGNT1)
|
|
|
ENST00000686379.1:c.*850G>T
(POMGNT1)
|
ENSP00000508913.1:n.*850G>T
|
|
ENST00000686724.1:n.3413G>T
(POMGNT1)
|
|
|
ENST00000686737.1:c.1726G>T
(POMGNT1)
|
ENSP00000508736.1:p.Val576Leu
|
|
ENST00000687112.1:n.2592G>T
(POMGNT1)
|
|
|
ENST00000687149.1:c.1765G>T
(POMGNT1)
|
ENSP00000509745.1:p.Val589Leu
|
|
ENST00000687197.1:c.*666G>T
(POMGNT1)
|
ENSP00000510749.1:n.*666G>T
|
|
ENST00000687235.1:n.3803G>T
(POMGNT1)
|
|
|
ENST00000687613.1:n.2366G>T
(POMGNT1)
|
|
|
ENST00000687683.1:c.1726G>T
(POMGNT1)
|
ENSP00000508522.1:p.Val576Leu
|
|
ENST00000688032.1:n.2263G>T
(POMGNT1)
|
|
|
ENST00000688596.1:n.2377G>T
(POMGNT1)
|
|
|
ENST00000688608.1:c.1627G>T
(POMGNT1)
|
ENSP00000508890.1:p.Val543Leu
|
|
ENST00000689031.1:n.2178G>T
(POMGNT1)
|
|
|
ENST00000689756.1:c.*1358G>T
(POMGNT1)
|
ENSP00000509023.1:n.*1358G>T
|
|
ENST00000690377.1:n.2073G>T
(POMGNT1)
|
|
|
ENST00000690678.1:c.1726G>T
(POMGNT1)
|
ENSP00000508703.1:p.Val576Leu
|
|
ENST00000691209.1:c.*666G>T
(POMGNT1)
|
ENSP00000510112.1:n.*666G>T
|
|
ENST00000691243.1:c.*117G>T
(POMGNT1)
|
ENSP00000510654.1:n.*117G>T
|
|
ENST00000692202.1:n.2301G>T
(POMGNT1)
|
|
|
ENST00000692322.1:c.*1513G>T
(POMGNT1)
|
ENSP00000509017.1:n.*1513G>T
|
|
ENST00000692369.1:c.1726G>T
(POMGNT1)
|
ENSP00000508453.1:p.Val576Leu
|
|
ENST00000692599.1:n.3601G>T
(POMGNT1)
|
|
|
ENST00000692635.1:c.*601G>T
(POMGNT1)
|
ENSP00000508425.1:n.*601G>T
|
|
ENST00000693168.1:n.3502G>T
(POMGNT1)
|
|
|
ENST00000693218.1:c.*287G>T
(POMGNT1)
|
ENSP00000510577.1:n.*287G>T
|
|
ENST00000693223.1:n.2674G>T
(POMGNT1)
|
|
|
ENST00000371984.8:c.1726G>T
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Val576Leu
|
|
ENST00000371984.7:c.1726G>T
(POMGNT1)
|
ENSP00000361052.3:p.Val576Leu
|
|
ENST00000371992.1:c.1726G>T
(POMGNT1)
|
ENSP00000361060.1:p.Val576Leu
|
|
ENST00000396420.7:c.*1395G>T
(POMGNT1)
|
ENSP00000379698.3:n.*1395G>T
|
|
ENST00000480972.1:n.375G>T
(POMGNT1)
|
|
|
NM_001243766.1:c.1726G>T
(POMGNT1)
|
NP_001230695.1:p.Val576Leu
|
|
NM_001290129.1:c.1660G>T
(POMGNT1)
|
NP_001277058.1:p.Val554Leu
|
|
NM_001290130.1:c.1297G>T
(POMGNT1)
|
NP_001277059.1:p.Val433Leu
|
|
NM_017739.3:c.1726G>T
(POMGNT1)
|
NP_060209.3:p.Val576Leu
|
|
XM_005271010.1:c.1726G>T
(POMGNT1)
|
XP_005271067.1:p.Val576Leu
|
|
XM_006710755.1:c.1726G>T
(POMGNT1)
|
XP_006710818.1:p.Val576Leu
|
|
XM_006710756.1:c.1726G>T
(POMGNT1)
|
XP_006710819.1:p.Val576Leu
|
|
XM_011540460.1:c.678+4605C>A
(TSPAN1)
|
XP_011538762.1:n.678+4605C>A
|
|
XM_011540461.1:c.633+4605C>A
(TSPAN1)
|
XP_011538763.1:n.633+4605C>A
|
|
XM_011541759.1:c.1660G>T
(POMGNT1)
|
XP_011540061.1:p.Val554Leu
|
|
XM_011541760.1:c.1660G>T
(POMGNT1)
|
XP_011540062.1:p.Val554Leu
|
|
XM_011541761.1:c.634G>T
(POMGNT1)
|
XP_011540063.1:p.Val212Leu
|
|
XM_011540460.3:c.678+4605C>A
(TSPAN1)
|
XP_011538762.1:n.678+4605C>A
|
|
XM_011541760.3:c.1660G>T
(POMGNT1)
|
XP_011540062.1:p.Val554Leu
|
|
XM_017001690.1:c.1726G>T
(POMGNT1)
|
XP_016857179.1:p.Val576Leu
|
|
NM_001243766.2:c.1726G>T
(POMGNT1)
|
NP_001230695.2:p.Val576Leu
|
|
NM_001290129.2:c.1660G>T
(POMGNT1)
|
NP_001277058.2:p.Val554Leu
|
|
NM_001290130.2:c.1297G>T
(POMGNT1)
|
NP_001277059.2:p.Val433Leu
|
|
NM_017739.4:c.1726G>T
(POMGNT1)
MANE Select
|
NP_060209.4:p.Val576Leu
|
|