Canonical Allele Identifier: CA16606518
Gene: DNM1L HGNC NCBI

Linked Data

ClinVar Variation Id: 388124
ClinVar RCV Id: RCV000439994
dbSNP Id: rs1057523007

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32679458G>C , CM000674.2:g.32679458G>C GRCh38
NC_000012.11:g.32832392G>C , CM000674.1:g.32832392G>C GRCh37
NC_000012.10:g.32723659G>C NCBI36
NG_012219.1:g.5256G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000434676.7:c.95G>C ENSP00000390090.2:p.Gly32Ala
ENST00000546757.6:c.95G>C ENSP00000448105.2:p.Gly32Ala
ENST00000547078.6:c.95G>C ENSP00000448802.2:p.Gly32Ala
ENST00000547719.2:n.186G>C
ENST00000547932.6:c.95G>C ENSP00000515272.1:p.Gly32Ala
ENST00000548671.6:c.95G>C ENSP00000515271.1:p.Gly32Ala
ENST00000548750.6:c.95G>C ENSP00000447788.2:p.Gly32Ala
ENST00000550011.6:c.95G>C ENSP00000515261.1:p.Gly32Ala
ENST00000550093.6:n.50G>C
ENST00000551076.6:c.95G>C ENSP00000515275.1:p.Gly32Ala
ENST00000551476.6:c.95G>C ENSP00000447845.2:p.Gly32Ala
ENST00000551643.6:c.95G>C ENSP00000450401.1:p.Gly32Ala
ENST00000703337.1:c.95G>C ENSP00000515262.1:p.Gly32Ala
ENST00000703360.1:c.95G>C ENSP00000515270.1:p.Gly32Ala
ENST00000703361.1:c.95G>C ENSP00000515273.1:p.Gly32Ala
ENST00000703362.1:c.95G>C ENSP00000515274.1:p.Gly32Ala
ENST00000703363.1:n.174G>C
ENST00000703364.1:n.158G>C
ENST00000703365.1:c.95G>C ENSP00000515276.1:p.Gly32Ala
ENST00000703366.1:n.139G>C
ENST00000703367.1:c.95G>C ENSP00000515277.1:p.Gly32Ala
ENST00000703368.1:c.95G>C ENSP00000515278.1:p.Gly32Ala
ENST00000703369.1:c.95G>C ENSP00000515279.1:p.Gly32Ala
ENST00000549701.6:c.95G>C MANE Select ENSP00000450399.1:p.Gly32Ala
ENST00000553257.6:c.95G>C MANE Plus Clinical ENSP00000449089.1:p.Gly32Ala
ENST00000266481.10:c.95G>C ENSP00000266481.6:p.Gly32Ala
ENST00000358214.9:c.95G>C ENSP00000350948.5:p.Gly32Ala
ENST00000381000.8:c.95G>C ENSP00000370388.4:p.Gly32Ala
ENST00000413295.6:c.95G>C ENSP00000396030.2:p.Gly32Ala
ENST00000414834.6:c.-111G>C ENSP00000404160.2:n.-111G>C
ENST00000434676.6:c.95G>C ENSP00000390090.2:p.Gly32Ala
ENST00000452533.6:c.95G>C ENSP00000415131.2:p.Gly32Ala
ENST00000546649.5:c.95G>C ENSP00000448936.1:p.Gly32Ala
ENST00000547312.5:c.95G>C ENSP00000448610.1:p.Gly32Ala
ENST00000547932.5:n.139G>C
ENST00000548671.5:n.158G>C
ENST00000548750.5:c.95G>C ENSP00000447788.1:p.Gly32Ala
ENST00000549701.5:c.95G>C ENSP00000450399.1:p.Gly32Ala
ENST00000550011.5:n.143G>C
ENST00000550154.5:c.95G>C ENSP00000447013.1:p.Gly32Ala
ENST00000551076.5:n.143G>C
ENST00000551476.5:c.95G>C ENSP00000447845.1:p.Gly32Ala
ENST00000551643.5:c.95G>C ENSP00000450401.1:p.Gly32Ala
ENST00000553257.5:c.95G>C ENSP00000449089.1:p.Gly32Ala
NM_001278463.1:c.95G>C NP_001265392.1:p.Gly32Ala
NM_001278464.1:c.95G>C NP_001265393.1:p.Gly32Ala
NM_001278465.1:c.95G>C NP_001265394.1:p.Gly32Ala
NM_001278466.1:c.-111G>C NP_001265395.1:n.-111G>C
NM_005690.4:c.95G>C NP_005681.2:p.Gly32Ala
NM_012062.4:c.95G>C NP_036192.2:p.Gly32Ala
NM_012063.3:c.95G>C NP_036193.2:p.Gly32Ala
XM_005253282.3:c.95G>C XP_005253339.1:p.Gly32Ala
XM_011520543.1:c.95G>C XP_011518845.1:p.Gly32Ala
XM_011520544.1:c.-400G>C XP_011518846.1:n.-400G>C
NM_001330380.1:c.95G>C NP_001317309.1:p.Gly32Ala
XM_011520543.3:c.95G>C XP_011518845.1:p.Gly32Ala
XM_011520544.2:c.-400G>C XP_011518846.1:n.-400G>C
XM_017018663.2:c.-400G>C XP_016874152.1:n.-400G>C
XM_017018664.1:c.-400G>C XP_016874153.1:n.-400G>C
XM_017018665.1:c.-400G>C XP_016874154.1:n.-400G>C
NM_012062.5:c.95G>C MANE Select NP_036192.2:p.Gly32Ala
NM_001278463.2:c.95G>C NP_001265392.1:p.Gly32Ala
NM_001278464.2:c.95G>C MANE Plus Clinical NP_001265393.1:p.Gly32Ala
NM_001278465.2:c.95G>C NP_001265394.1:p.Gly32Ala
NM_001278466.2:c.-111G>C NP_001265395.1:n.-111G>C
NM_001330380.2:c.95G>C NP_001317309.1:p.Gly32Ala
NM_005690.5:c.95G>C NP_005681.2:p.Gly32Ala
NM_012063.4:c.95G>C NP_036193.2:p.Gly32Ala