|
NM_019109.5:c.1312C>T
(ALG1)
MANE Select
|
NP_061982.3:p.Arg438Trp
|
|
NM_201400.4:c.*834G>A
(EEF2KMT)
MANE Select
|
NP_958802.1:n.*834G>A
|
|
ENST00000262374.10:c.1312C>T
(ALG1)
MANE Select
|
ENSP00000262374.5:p.Arg438Trp
|
|
ENST00000427587.9:c.*834G>A
(EEF2KMT)
MANE Select
|
ENSP00000398502.3:n.*834G>A
|
|
NM_001289029.1:c.*834G>A
(EEF2KMT)
|
NP_001275958.1:n.*834G>A
|
|
NM_001289029.2:c.*834G>A
(EEF2KMT)
|
NP_001275958.1:n.*834G>A
|
|
NM_001330504.1:c.979C>T
(ALG1)
|
NP_001317433.1:p.Arg327Trp
|
|
NM_001330504.2:c.979C>T
(ALG1)
|
NP_001317433.1:p.Arg327Trp
|
|
NM_019109.4:c.1312C>T
(ALG1)
|
NP_061982.3:p.Arg438Trp
|
|
NM_201400.3:c.*834G>A
(EEF2KMT)
|
NP_958802.1:n.*834G>A
|
|
NM_201598.3:c.*834G>A
(EEF2KMT)
|
NP_963892.1:n.*834G>A
|
|
NM_201598.4:c.*834G>A
(EEF2KMT)
|
NP_963892.1:n.*834G>A
|
|
ENST00000262374.9:c.1312C>T
(ALG1)
|
ENSP00000262374.4:p.Arg438Trp
|
|
ENST00000427587.8:c.*834G>A
(EEF2KMT)
|
ENSP00000398502.3:n.*834G>A
|
|
ENST00000458008.8:c.*834G>A
(EEF2KMT)
|
ENSP00000389710.3:n.*834G>A
|
|
ENST00000544428.1:c.979C>T
(ALG1)
|
ENSP00000440019.1:p.Arg327Trp
|
|
ENST00000585436.5:c.*1335G>A
(EEF2KMT)
|
ENSP00000464781.1:n.*1335G>A
|
|
ENST00000588623.5:c.979C>T
(ALG1)
|
ENSP00000468118.1:p.Arg327Trp
|
|
ENST00000591822.5:c.*1213C>T
(ALG1)
|
ENSP00000467865.1:n.*1213C>T
|
|
ENST00000592793.6:n.3448C>T
(ALG1)
|
|
|
ENST00000650085.1:n.2136C>T
(ALG1)
|
|
|
ENST00000682020.1:c.718C>T
(ALG1)
|
ENSP00000508075.1:p.Arg240Trp
|
|
ENST00000682206.1:c.*407C>T
(ALG1)
|
ENSP00000508285.1:n.*407C>T
|
|
ENST00000682314.1:n.2368C>T
(ALG1)
|
|
|
ENST00000682327.1:c.784C>T
(ALG1)
|
ENSP00000507058.1:p.Arg262Trp
|
|
ENST00000682349.1:n.3454C>T
(ALG1)
|
|
|
ENST00000682703.1:n.5288C>T
(ALG1)
|
|
|
ENST00000682797.1:c.*404C>T
(ALG1)
|
ENSP00000507582.1:n.*404C>T
|
|
ENST00000682985.1:c.823C>T
(ALG1)
|
ENSP00000507598.1:p.Arg275Trp
|
|
ENST00000683433.1:c.571C>T
(ALG1)
|
ENSP00000507463.1:p.Arg191Trp
|
|
ENST00000683685.1:n.3194C>T
(ALG1)
|
|
|
ENST00000683710.1:c.*1279C>T
(ALG1)
|
ENSP00000506785.1:n.*1279C>T
|
|
ENST00000683739.1:c.979C>T
(ALG1)
|
ENSP00000507002.1:p.Arg327Trp
|
|
ENST00000683772.1:n.2364C>T
(ALG1)
|
|
|
ENST00000684008.1:c.1250C>T
(ALG1)
|
ENSP00000507962.1:n.1250C>T
|
|
ENST00000684190.1:c.1273C>T
(ALG1)
|
ENSP00000507554.1:p.Arg425Trp
|
|
ENST00000684335.1:c.1201C>T
(ALG1)
|
ENSP00000508112.1:p.Arg401Trp
|
|
XM_005255157.4:c.*834G>A
(EEF2KMT)
|
XP_005255214.1:n.*834G>A
|
|
XM_005255158.4:c.*834G>A
(EEF2KMT)
|
XP_005255215.1:n.*834G>A
|
|
XM_011522404.2:c.*834G>A
(EEF2KMT)
|
XP_011520706.1:n.*834G>A
|
|
XM_011522565.1:c.979C>T
(ALG1)
|
XP_011520867.1:p.Arg327Trp
|
|
XM_017023457.2:c.1273C>T
(ALG1)
|
XP_016878946.1:p.Arg425Trp
|
|
XM_017023458.1:c.979C>T
(ALG1)
|
XP_016878947.1:p.Arg327Trp
|
|
XR_932882.3:n.1341C>T
(ALG1)
|
|
