Canonical Allele Identifier: CA384371353
Community Standard Title: NM_012062.5(DNM1L):c.1048G>C (p.Gly350Arg)
Gene: DNM1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32722602G>C , CM000674.2:g.32722602G>C GRCh38
NC_000012.11:g.32875536G>C , CM000674.1:g.32875536G>C GRCh37
NC_000012.10:g.32766803G>C NCBI36
NG_012219.1:g.48400G>C

Transcript Alleles

HGVS Amino-acid Change
NM_012062.5:c.1048G>C MANE Select NP_036192.2:p.Gly350Arg
ENST00000549701.6:c.1048G>C MANE Select ENSP00000450399.1:p.Gly350Arg
NM_001278464.2:c.1087G>C MANE Plus Clinical NP_001265393.1:p.Gly363Arg
ENST00000553257.6:c.1087G>C MANE Plus Clinical ENSP00000449089.1:p.Gly363Arg
NM_001278463.1:c.1048G>C NP_001265392.1:p.Gly350Arg
NM_001278463.2:c.1048G>C NP_001265392.1:p.Gly350Arg
NM_001278464.1:c.1087G>C NP_001265393.1:p.Gly363Arg
NM_001278465.1:c.1087G>C NP_001265394.1:p.Gly363Arg
NM_001278465.2:c.1087G>C NP_001265394.1:p.Gly363Arg
NM_001278466.1:c.439G>C NP_001265395.1:p.Gly147Arg
NM_001278466.2:c.439G>C NP_001265395.1:p.Gly147Arg
NM_001330380.1:c.1087G>C NP_001317309.1:p.Gly363Arg
NM_001330380.2:c.1087G>C NP_001317309.1:p.Gly363Arg
NM_005690.4:c.1048G>C NP_005681.2:p.Gly350Arg
NM_005690.5:c.1048G>C NP_005681.2:p.Gly350Arg
NM_012062.4:c.1048G>C NP_036192.2:p.Gly350Arg
NM_012063.3:c.1048G>C NP_036193.2:p.Gly350Arg
NM_012063.4:c.1048G>C NP_036193.2:p.Gly350Arg
ENST00000266481.10:c.1048G>C ENSP00000266481.6:p.Gly350Arg
ENST00000358214.9:c.1087G>C ENSP00000350948.5:p.Gly363Arg
ENST00000381000.8:c.1087G>C ENSP00000370388.4:p.Gly363Arg
ENST00000413295.6:c.*297G>C ENSP00000396030.2:n.*297G>C
ENST00000414834.6:c.439G>C ENSP00000404160.2:p.Gly147Arg
ENST00000434676.6:c.*414G>C ENSP00000390090.2:n.*414G>C
ENST00000434676.7:c.*414G>C ENSP00000390090.2:n.*414G>C
ENST00000452533.6:c.1048G>C ENSP00000415131.2:p.Gly350Arg
ENST00000546649.5:c.*290G>C ENSP00000448936.1:n.*290G>C
ENST00000546757.5:c.899G>C ENSP00000448105.1:n.899G>C
ENST00000546757.6:c.*734G>C ENSP00000448105.2:n.*734G>C
ENST00000547078.6:c.1087G>C ENSP00000448802.2:p.Gly363Arg
ENST00000547312.5:c.1048G>C ENSP00000448610.1:p.Gly350Arg
ENST00000547548.1:n.554G>C
ENST00000547719.2:n.2681G>C
ENST00000547932.6:c.*414G>C ENSP00000515272.1:n.*414G>C
ENST00000548671.6:c.*595G>C ENSP00000515271.1:n.*595G>C
ENST00000548750.6:c.961G>C ENSP00000447788.2:p.Gly321Arg
ENST00000549701.5:c.1048G>C ENSP00000450399.1:p.Gly350Arg
ENST00000549926.6:c.601G>C ENSP00000515263.1:p.Gly201Arg
ENST00000550011.6:c.*1038G>C ENSP00000515261.1:n.*1038G>C
ENST00000550093.6:n.1135G>C
ENST00000551076.6:c.*665G>C ENSP00000515275.1:n.*665G>C
ENST00000551476.6:c.997G>C ENSP00000447845.2:p.Gly333Arg
ENST00000551643.6:c.*879G>C ENSP00000450401.1:n.*879G>C
ENST00000553257.5:c.1087G>C ENSP00000449089.1:p.Gly363Arg
ENST00000703337.1:c.*845G>C ENSP00000515262.1:n.*845G>C
ENST00000703338.1:c.601G>C ENSP00000515264.1:p.Gly201Arg
ENST00000703360.1:c.*734G>C ENSP00000515270.1:n.*734G>C
ENST00000703361.1:c.679G>C ENSP00000515273.1:p.Gly227Arg
ENST00000703362.1:c.*414G>C ENSP00000515274.1:n.*414G>C
ENST00000703363.1:n.2669G>C
ENST00000703364.1:n.2746G>C
ENST00000703365.1:c.1048G>C ENSP00000515276.1:p.Gly350Arg
ENST00000703366.1:n.2082G>C
ENST00000703367.1:c.1048G>C ENSP00000515277.1:p.Gly350Arg
ENST00000703368.1:c.*595G>C ENSP00000515278.1:n.*595G>C
ENST00000703369.1:c.679G>C ENSP00000515279.1:p.Gly227Arg
ENST00000703370.1:c.601G>C ENSP00000515280.1:p.Gly201Arg
ENST00000703371.1:c.601G>C ENSP00000515281.1:p.Gly201Arg
ENST00000703372.1:c.841G>C ENSP00000515282.1:p.Gly281Arg
XM_005253282.3:c.1087G>C XP_005253339.1:p.Gly363Arg
XM_005253283.3:c.601G>C XP_005253340.1:p.Gly201Arg
XM_011520543.1:c.1087G>C XP_011518845.1:p.Gly363Arg
XM_011520543.3:c.1087G>C XP_011518845.1:p.Gly363Arg
XM_011520544.1:c.391G>C XP_011518846.1:p.Gly131Arg
XM_011520544.2:c.391G>C XP_011518846.1:p.Gly131Arg
XM_017018663.2:c.391G>C XP_016874152.1:p.Gly131Arg
XM_017018664.1:c.391G>C XP_016874153.1:p.Gly131Arg
XM_017018665.1:c.391G>C XP_016874154.1:p.Gly131Arg