Canonical Allele Identifier: CA384367012

Gene: DNM1L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32711004G>A , CM000674.2:g.32711004G>A	GRCh38
NC_000012.11:g.32863938G>A , CM000674.1:g.32863938G>A	GRCh37
NC_000012.10:g.32755205G>A	NCBI36
NG_012219.1:g.36802G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012062.5:c.445G>A MANE Select	NP_036192.2:p.Gly149Arg
ENST00000549701.6:c.445G>A MANE Select	ENSP00000450399.1:p.Gly149Arg
NM_001278464.2:c.484G>A MANE Plus Clinical	NP_001265393.1:p.Gly162Arg
ENST00000553257.6:c.484G>A MANE Plus Clinical	ENSP00000449089.1:p.Gly162Arg
NM_001278463.1:c.445G>A	NP_001265392.1:p.Gly149Arg
NM_001278463.2:c.445G>A	NP_001265392.1:p.Gly149Arg
NM_001278464.1:c.484G>A	NP_001265393.1:p.Gly162Arg
NM_001278465.1:c.484G>A	NP_001265394.1:p.Gly162Arg
NM_001278465.2:c.484G>A	NP_001265394.1:p.Gly162Arg
NM_001278466.1:c.131+3591G>A	NP_001265395.1:n.131+3591G>A
NM_001278466.2:c.131+3591G>A	NP_001265395.1:n.131+3591G>A
NM_001330380.1:c.484G>A	NP_001317309.1:p.Gly162Arg
NM_001330380.2:c.484G>A	NP_001317309.1:p.Gly162Arg
NM_005690.4:c.445G>A	NP_005681.2:p.Gly149Arg
NM_005690.5:c.445G>A	NP_005681.2:p.Gly149Arg
NM_012062.4:c.445G>A	NP_036192.2:p.Gly149Arg
NM_012063.3:c.445G>A	NP_036193.2:p.Gly149Arg
NM_012063.4:c.445G>A	NP_036193.2:p.Gly149Arg
ENST00000266481.10:c.445G>A	ENSP00000266481.6:p.Gly149Arg
ENST00000358214.9:c.484G>A	ENSP00000350948.5:p.Gly162Arg
ENST00000381000.8:c.484G>A	ENSP00000370388.4:p.Gly162Arg
ENST00000413295.6:c.370-2205G>A	ENSP00000396030.2:n.370-2205G>A
ENST00000414834.6:c.131+3591G>A	ENSP00000404160.2:n.131+3591G>A
ENST00000434676.6:c.445G>A	ENSP00000390090.2:p.Gly149Arg
ENST00000434676.7:c.445G>A	ENSP00000390090.2:p.Gly149Arg
ENST00000452533.6:c.445G>A	ENSP00000415131.2:p.Gly149Arg
ENST00000546649.5:c.336+3591G>A	ENSP00000448936.1:n.336+3591G>A
ENST00000546757.5:c.296G>A	ENSP00000448105.1:n.296G>A
ENST00000546757.6:c.*131G>A	ENSP00000448105.2:n.*131G>A
ENST00000547078.6:c.484G>A	ENSP00000448802.2:p.Gly162Arg
ENST00000547312.5:c.445G>A	ENSP00000448610.1:p.Gly149Arg
ENST00000547719.2:n.2078G>A
ENST00000547932.5:n.341+3591G>A
ENST00000547932.6:c.297+3591G>A	ENSP00000515272.1:n.297+3591G>A
ENST00000548671.5:n.508G>A
ENST00000548671.6:c.445G>A	ENSP00000515271.1:p.Gly149Arg
ENST00000548750.5:c.370-2205G>A	ENSP00000447788.1:n.370-2205G>A
ENST00000548750.6:c.370-2205G>A	ENSP00000447788.2:n.370-2205G>A
ENST00000549701.5:c.445G>A	ENSP00000450399.1:p.Gly149Arg
ENST00000549926.5:n.623G>A
ENST00000549926.6:c.-3G>A	ENSP00000515263.1:n.-3G>A
ENST00000550011.6:c.*435G>A	ENSP00000515261.1:n.*435G>A
ENST00000550093.6:n.439G>A
ENST00000550154.5:c.373G>A	ENSP00000447013.1:p.Gly125Arg
ENST00000551076.6:c.*62G>A	ENSP00000515275.1:n.*62G>A
ENST00000551476.5:c.394G>A	ENSP00000447845.1:p.Gly132Arg
ENST00000551476.6:c.394G>A	ENSP00000447845.2:p.Gly132Arg
ENST00000551643.6:c.*276G>A	ENSP00000450401.1:n.*276G>A
ENST00000553257.5:c.484G>A	ENSP00000449089.1:p.Gly162Arg
ENST00000703337.1:c.*242G>A	ENSP00000515262.1:n.*242G>A
ENST00000703338.1:c.-3G>A	ENSP00000515264.1:n.-3G>A
ENST00000703360.1:c.*131G>A	ENSP00000515270.1:n.*131G>A
ENST00000703361.1:c.251-7639G>A	ENSP00000515273.1:n.251-7639G>A
ENST00000703362.1:c.297+3591G>A	ENSP00000515274.1:n.297+3591G>A
ENST00000703363.1:n.2066G>A
ENST00000703364.1:n.2050G>A
ENST00000703365.1:c.445G>A	ENSP00000515276.1:p.Gly149Arg
ENST00000703366.1:n.1479G>A
ENST00000703367.1:c.445G>A	ENSP00000515277.1:p.Gly149Arg
ENST00000703368.1:c.484G>A	ENSP00000515278.1:p.Gly162Arg
ENST00000703369.1:c.251-7639G>A	ENSP00000515279.1:n.251-7639G>A
ENST00000703370.1:c.-3G>A	ENSP00000515280.1:n.-3G>A
ENST00000703371.1:c.-3G>A	ENSP00000515281.1:n.-3G>A
ENST00000703372.1:c.238G>A	ENSP00000515282.1:p.Gly80Arg
XM_005253282.3:c.484G>A	XP_005253339.1:p.Gly162Arg
XM_005253283.3:c.-3G>A	XP_005253340.1:n.-3G>A
XM_011520543.1:c.484G>A	XP_011518845.1:p.Gly162Arg
XM_011520543.3:c.484G>A	XP_011518845.1:p.Gly162Arg
XM_011520544.1:c.-50G>A	XP_011518846.1:n.-50G>A
XM_011520544.2:c.-50G>A	XP_011518846.1:n.-50G>A
XM_017018663.2:c.-50G>A	XP_016874152.1:n.-50G>A
XM_017018664.1:c.-50G>A	XP_016874153.1:n.-50G>A
XM_017018665.1:c.-50G>A	XP_016874154.1:n.-50G>A