Canonical Allele Identifier: CA384358359
Community Standard Title: NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32731383G>A , CM000674.2:g.32731383G>A GRCh38
NC_000012.11:g.32884317G>A , CM000674.1:g.32884317G>A GRCh37
NC_000012.10:g.32775584G>A NCBI36
NG_012219.1:g.57181G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012062.5:c.1228G>A (DNM1L) MANE Select NP_036192.2:p.Glu410Lys
ENST00000549701.6:c.1228G>A (DNM1L) MANE Select ENSP00000450399.1:p.Glu410Lys
NM_001278464.2:c.1267G>A (DNM1L) MANE Plus Clinical NP_001265393.1:p.Glu423Lys
ENST00000553257.6:c.1267G>A (DNM1L) MANE Plus Clinical ENSP00000449089.1:p.Glu423Lys
NM_001278463.1:c.1228G>A (DNM1L) NP_001265392.1:p.Glu410Lys
NM_001278463.2:c.1228G>A (DNM1L) NP_001265392.1:p.Glu410Lys
NM_001278464.1:c.1267G>A (DNM1L) NP_001265393.1:p.Glu423Lys
NM_001278465.1:c.1267G>A (DNM1L) NP_001265394.1:p.Glu423Lys
NM_001278465.2:c.1267G>A (DNM1L) NP_001265394.1:p.Glu423Lys
NM_001278466.1:c.619G>A (DNM1L) NP_001265395.1:p.Glu207Lys
NM_001278466.2:c.619G>A (DNM1L) NP_001265395.1:p.Glu207Lys
NM_001330380.1:c.1267G>A (DNM1L) NP_001317309.1:p.Glu423Lys
NM_001330380.2:c.1267G>A (DNM1L) NP_001317309.1:p.Glu423Lys
NM_005690.4:c.1228G>A (DNM1L) NP_005681.2:p.Glu410Lys
NM_005690.5:c.1228G>A (DNM1L) NP_005681.2:p.Glu410Lys
NM_012062.4:c.1228G>A (DNM1L) NP_036192.2:p.Glu410Lys
NM_012063.3:c.1228G>A (DNM1L) NP_036193.2:p.Glu410Lys
NM_012063.4:c.1228G>A (DNM1L) NP_036193.2:p.Glu410Lys
ENST00000266481.10:c.1228G>A (DNM1L) ENSP00000266481.6:p.Glu410Lys
ENST00000358214.9:c.1267G>A (DNM1L) ENSP00000350948.5:p.Glu423Lys
ENST00000381000.8:c.1267G>A (DNM1L) ENSP00000370388.4:p.Glu423Lys
ENST00000413295.6:c.*477G>A (DNM1L) ENSP00000396030.2:n.*477G>A
ENST00000414834.6:c.619G>A (DNM1L) ENSP00000404160.2:p.Glu207Lys
ENST00000434676.7:c.*594G>A (DNM1L) ENSP00000390090.2:n.*594G>A
ENST00000452533.6:c.1228G>A (DNM1L) ENSP00000415131.2:p.Glu410Lys
ENST00000546649.5:c.*470G>A (DNM1L) ENSP00000448936.1:n.*470G>A
ENST00000546757.5:c.1079G>A (DNM1L) ENSP00000448105.1:n.1079G>A
ENST00000546757.6:c.*914G>A (DNM1L) ENSP00000448105.2:n.*914G>A
ENST00000547078.6:c.1267G>A (DNM1L) ENSP00000448802.2:p.Glu423Lys
ENST00000547312.5:c.1228G>A (DNM1L) ENSP00000448610.1:p.Glu410Lys
ENST00000547719.2:n.2861G>A (DNM1L)
ENST00000547932.6:c.*594G>A (DNM1L) ENSP00000515272.1:n.*594G>A
ENST00000548671.6:c.*775G>A (DNM1L) ENSP00000515271.1:n.*775G>A
ENST00000548750.6:c.1141G>A (DNM1L) ENSP00000447788.2:p.Glu381Lys
ENST00000549701.5:c.1228G>A (DNM1L) ENSP00000450399.1:p.Glu410Lys
ENST00000549926.6:c.781G>A (DNM1L) ENSP00000515263.1:p.Glu261Lys
ENST00000550011.6:c.*1218G>A (DNM1L) ENSP00000515261.1:n.*1218G>A
ENST00000550093.6:n.1315G>A (DNM1L)
ENST00000551076.6:c.*845G>A (DNM1L) ENSP00000515275.1:n.*845G>A
ENST00000551476.6:c.1177G>A (DNM1L) ENSP00000447845.2:p.Glu393Lys
ENST00000551643.6:c.*1059G>A (DNM1L) ENSP00000450401.1:n.*1059G>A
ENST00000551673.5:n.460-3864C>T (YARS2)
ENST00000553257.5:c.1267G>A (DNM1L) ENSP00000449089.1:p.Glu423Lys
ENST00000703337.1:c.*1025G>A (DNM1L) ENSP00000515262.1:n.*1025G>A
ENST00000703338.1:c.781G>A (DNM1L) ENSP00000515264.1:p.Glu261Lys
ENST00000703360.1:c.*914G>A (DNM1L) ENSP00000515270.1:n.*914G>A
ENST00000703361.1:c.859G>A (DNM1L) ENSP00000515273.1:p.Glu287Lys
ENST00000703362.1:c.*594G>A (DNM1L) ENSP00000515274.1:n.*594G>A
ENST00000703363.1:n.2849G>A (DNM1L)
ENST00000703364.1:n.2926G>A (DNM1L)
ENST00000703365.1:c.*93G>A (DNM1L) ENSP00000515276.1:n.*93G>A
ENST00000703366.1:n.2288G>A (DNM1L)
ENST00000703367.1:c.1228G>A (DNM1L) ENSP00000515277.1:p.Glu410Lys
ENST00000703368.1:c.*775G>A (DNM1L) ENSP00000515278.1:n.*775G>A
ENST00000703369.1:c.859G>A (DNM1L) ENSP00000515279.1:p.Glu287Lys
ENST00000703370.1:c.781G>A (DNM1L) ENSP00000515280.1:p.Glu261Lys
ENST00000703371.1:c.781G>A (DNM1L) ENSP00000515281.1:p.Glu261Lys
ENST00000703372.1:c.1021G>A (DNM1L) ENSP00000515282.1:p.Glu341Lys
XM_005253282.3:c.1267G>A (DNM1L) XP_005253339.1:p.Glu423Lys
XM_005253283.3:c.781G>A (DNM1L) XP_005253340.1:p.Glu261Lys
XM_011520543.1:c.1267G>A (DNM1L) XP_011518845.1:p.Glu423Lys
XM_011520543.3:c.1267G>A (DNM1L) XP_011518845.1:p.Glu423Lys
XM_011520544.1:c.571G>A (DNM1L) XP_011518846.1:p.Glu191Lys
XM_011520544.2:c.571G>A (DNM1L) XP_011518846.1:p.Glu191Lys
XM_017018663.2:c.571G>A (DNM1L) XP_016874152.1:p.Glu191Lys
XM_017018664.1:c.571G>A (DNM1L) XP_016874153.1:p.Glu191Lys
XM_017018665.1:c.571G>A (DNM1L) XP_016874154.1:p.Glu191Lys
XR_001748730.2:n.2272-6018C>T (YARS2)
XR_002957331.1:n.2147-3864C>T (YARS2)
XR_242891.3:n.1832+249C>T (YARS2)
XR_242892.3:n.1650-6018C>T (YARS2)
XR_242892.5:n.2147-6018C>T (YARS2)
XR_429036.1:n.1707+249C>T (YARS2)
XR_931297.1:n.1832+249C>T (YARS2)
XR_931298.1:n.1707+249C>T (YARS2)
XR_931299.1:n.1650-3864C>T (YARS2)