ENST00000396420.8:c.1611G>C
(POMGNT1)
|
ENSP00000379698.4:p.Lys537Asn
|
|
ENST00000477114.2:n.2173G>C
(POMGNT1)
|
|
|
ENST00000497439.6:n.1783G>C
(POMGNT1)
|
|
|
ENST00000684817.1:n.1971G>C
(POMGNT1)
|
|
|
ENST00000684898.1:n.2173G>C
(POMGNT1)
|
|
|
ENST00000685230.1:c.*921G>C
(POMGNT1)
|
ENSP00000510305.1:n.*921G>C
|
|
ENST00000685275.1:n.2158G>C
(POMGNT1)
|
|
|
ENST00000685444.1:c.1512G>C
(POMGNT1)
|
ENSP00000510762.1:p.Lys504Asn
|
|
ENST00000685704.1:n.2277G>C
(POMGNT1)
|
|
|
ENST00000685775.1:n.4653G>C
(POMGNT1)
|
|
|
ENST00000685833.1:n.4004G>C
(POMGNT1)
|
|
|
ENST00000686252.1:n.2685G>C
(POMGNT1)
|
|
|
ENST00000686379.1:c.*735G>C
(POMGNT1)
|
ENSP00000508913.1:n.*735G>C
|
|
ENST00000686724.1:n.3298G>C
(POMGNT1)
|
|
|
ENST00000686737.1:c.1611G>C
(POMGNT1)
|
ENSP00000508736.1:p.Lys537Asn
|
|
ENST00000687112.1:n.2477G>C
(POMGNT1)
|
|
|
ENST00000687149.1:c.1650G>C
(POMGNT1)
|
ENSP00000509745.1:p.Lys550Asn
|
|
ENST00000687197.1:c.*551G>C
(POMGNT1)
|
ENSP00000510749.1:n.*551G>C
|
|
ENST00000687235.1:n.3688G>C
(POMGNT1)
|
|
|
ENST00000687613.1:n.2290-522G>C
(POMGNT1)
|
|
|
ENST00000687683.1:c.1611G>C
(POMGNT1)
|
ENSP00000508522.1:p.Lys537Asn
|
|
ENST00000688032.1:n.2148G>C
(POMGNT1)
|
|
|
ENST00000688596.1:n.2262G>C
(POMGNT1)
|
|
|
ENST00000688608.1:c.1512G>C
(POMGNT1)
|
ENSP00000508890.1:p.Lys504Asn
|
|
ENST00000688919.1:n.3009G>C
(POMGNT1)
|
|
|
ENST00000689031.1:n.2102-522G>C
(POMGNT1)
|
|
|
ENST00000689717.1:n.1985G>C
(POMGNT1)
|
|
|
ENST00000689756.1:c.*1243G>C
(POMGNT1)
|
ENSP00000509023.1:n.*1243G>C
|
|
ENST00000690377.1:n.1958G>C
(POMGNT1)
|
|
|
ENST00000690678.1:c.1611G>C
(POMGNT1)
|
ENSP00000508703.1:p.Lys537Asn
|
|
ENST00000691209.1:c.*551G>C
(POMGNT1)
|
ENSP00000510112.1:n.*551G>C
|
|
ENST00000691243.1:c.*2G>C
(POMGNT1)
|
ENSP00000510654.1:n.*2G>C
|
|
ENST00000692169.1:n.3275G>C
(POMGNT1)
|
|
|
ENST00000692202.1:n.2186G>C
(POMGNT1)
|
|
|
ENST00000692322.1:c.*1398G>C
(POMGNT1)
|
ENSP00000509017.1:n.*1398G>C
|
|
ENST00000692369.1:c.1611G>C
(POMGNT1)
|
ENSP00000508453.1:p.Lys537Asn
|
|
ENST00000692599.1:n.3486G>C
(POMGNT1)
|
|
|
ENST00000692635.1:c.*486G>C
(POMGNT1)
|
ENSP00000508425.1:n.*486G>C
|
|
ENST00000693168.1:n.3387G>C
(POMGNT1)
|
|
|
ENST00000693218.1:c.*172G>C
(POMGNT1)
|
ENSP00000510577.1:n.*172G>C
|
|
ENST00000693223.1:n.2559G>C
(POMGNT1)
|
|
|
ENST00000693365.1:n.5760G>C
(POMGNT1)
|
|
|
ENST00000371984.8:c.1611G>C
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Lys537Asn
|
|
ENST00000371984.7:c.1611G>C
(POMGNT1)
|
ENSP00000361052.3:p.Lys537Asn
|
|
ENST00000371992.1:c.1611G>C
(POMGNT1)
|
ENSP00000361060.1:p.Lys537Asn
|
|
ENST00000396420.7:c.*1280G>C
(POMGNT1)
|
ENSP00000379698.3:n.*1280G>C
|
|
ENST00000480972.1:n.260G>C
(POMGNT1)
|
|
|
ENST00000485714.1:n.2512G>C
(POMGNT1)
|
|
|
NM_001243766.1:c.1611G>C
(POMGNT1)
|
NP_001230695.1:p.Lys537Asn
|
|
NM_001290129.1:c.1545G>C
(POMGNT1)
|
NP_001277058.1:p.Lys515Asn
|
|
NM_001290130.1:c.1182G>C
(POMGNT1)
|
NP_001277059.1:p.Lys394Asn
|
|
NM_017739.3:c.1611G>C
(POMGNT1)
|
NP_060209.3:p.Lys537Asn
|
|
XM_005271010.1:c.1611G>C
(POMGNT1)
|
XP_005271067.1:p.Lys537Asn
|
|
XM_006710755.1:c.1611G>C
(POMGNT1)
|
XP_006710818.1:p.Lys537Asn
|
|
XM_006710756.1:c.1611G>C
(POMGNT1)
|
XP_006710819.1:p.Lys537Asn
|
|
XM_011540460.1:c.678+5203C>G
(TSPAN1)
|
XP_011538762.1:n.678+5203C>G
|
|
XM_011540461.1:c.633+5203C>G
(TSPAN1)
|
XP_011538763.1:n.633+5203C>G
|
|
XM_011541759.1:c.1545G>C
(POMGNT1)
|
XP_011540061.1:p.Lys515Asn
|
|
XM_011541760.1:c.1545G>C
(POMGNT1)
|
XP_011540062.1:p.Lys515Asn
|
|
XM_011541761.1:c.519G>C
(POMGNT1)
|
XP_011540063.1:p.Lys173Asn
|
|
XM_011540460.3:c.678+5203C>G
(TSPAN1)
|
XP_011538762.1:n.678+5203C>G
|
|
XM_011541760.3:c.1545G>C
(POMGNT1)
|
XP_011540062.1:p.Lys515Asn
|
|
XM_017001690.1:c.1611G>C
(POMGNT1)
|
XP_016857179.1:p.Lys537Asn
|
|
NM_001243766.2:c.1611G>C
(POMGNT1)
|
NP_001230695.2:p.Lys537Asn
|
|
NM_001290129.2:c.1545G>C
(POMGNT1)
|
NP_001277058.2:p.Lys515Asn
|
|
NM_001290130.2:c.1182G>C
(POMGNT1)
|
NP_001277059.2:p.Lys394Asn
|
|
NM_017739.4:c.1611G>C
(POMGNT1)
MANE Select
|
NP_060209.4:p.Lys537Asn
|
|