Canonical Allele Identifier: CA290650

Gene: DNM1L YARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32733738A>G , CM000674.2:g.32733738A>G	GRCh38
NC_000012.11:g.32886672A>G , CM000674.1:g.32886672A>G	GRCh37
NC_000012.10:g.32777939A>G	NCBI36
NG_012219.1:g.59536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*836A>G (DNM1L)	ENSP00000390090.2:n.*836A>G
ENST00000546757.6:c.*1156A>G (DNM1L)	ENSP00000448105.2:n.*1156A>G
ENST00000547078.6:c.*67A>G (DNM1L)	ENSP00000448802.2:n.*67A>G
ENST00000547719.2:n.3103A>G (DNM1L)
ENST00000547932.6:c.*836A>G (DNM1L)	ENSP00000515272.1:n.*836A>G
ENST00000548671.6:c.*1017A>G (DNM1L)	ENSP00000515271.1:n.*1017A>G
ENST00000548750.6:c.1383A>G (DNM1L)	ENSP00000447788.2:p.Glu461=
ENST00000549926.6:c.1023A>G (DNM1L)	ENSP00000515263.1:p.Glu341=
ENST00000550011.6:c.*1533A>G (DNM1L)	ENSP00000515261.1:n.*1533A>G
ENST00000550093.6:n.1557A>G (DNM1L)
ENST00000551076.6:c.*1087A>G (DNM1L)	ENSP00000515275.1:n.*1087A>G
ENST00000551476.6:c.1419A>G (DNM1L)	ENSP00000447845.2:p.Glu473=
ENST00000551643.6:c.*1301A>G (DNM1L)	ENSP00000450401.1:n.*1301A>G
ENST00000703337.1:c.*1267A>G (DNM1L)	ENSP00000515262.1:n.*1267A>G
ENST00000703338.1:c.1023A>G (DNM1L)	ENSP00000515264.1:p.Glu341=
ENST00000703360.1:c.*1156A>G (DNM1L)	ENSP00000515270.1:n.*1156A>G
ENST00000703361.1:c.1101A>G (DNM1L)	ENSP00000515273.1:p.Glu367=
ENST00000703362.1:c.*836A>G (DNM1L)	ENSP00000515274.1:n.*836A>G
ENST00000703363.1:n.3164A>G (DNM1L)
ENST00000703364.1:n.3168A>G (DNM1L)
ENST00000703365.1:c.*335A>G (DNM1L)	ENSP00000515276.1:n.*335A>G
ENST00000703366.1:n.2530A>G (DNM1L)
ENST00000703367.1:c.1470A>G (DNM1L)	ENSP00000515277.1:p.Glu490=
ENST00000703368.1:c.*1017A>G (DNM1L)	ENSP00000515278.1:n.*1017A>G
ENST00000703369.1:c.1101A>G (DNM1L)	ENSP00000515279.1:p.Glu367=
ENST00000703370.1:c.1023A>G (DNM1L)	ENSP00000515280.1:p.Glu341=
ENST00000703371.1:c.1023A>G (DNM1L)	ENSP00000515281.1:p.Glu341=
ENST00000549701.6:c.1470A>G (DNM1L) MANE Select	ENSP00000450399.1:p.Glu490=
ENST00000553257.6:c.1509A>G (DNM1L) MANE Plus Clinical	ENSP00000449089.1:p.Glu503=
ENST00000266481.10:c.1470A>G (DNM1L)	ENSP00000266481.6:p.Glu490=
ENST00000358214.9:c.1509A>G (DNM1L)	ENSP00000350948.5:p.Glu503=
ENST00000381000.8:c.1509A>G (DNM1L)	ENSP00000370388.4:p.Glu503=
ENST00000414834.6:c.861A>G (DNM1L)	ENSP00000404160.2:p.Glu287=
ENST00000452533.6:c.1470A>G (DNM1L)	ENSP00000415131.2:p.Glu490=
ENST00000546649.5:c.*712A>G (DNM1L)	ENSP00000448936.1:n.*712A>G
ENST00000546757.5:c.1321A>G (DNM1L)	ENSP00000448105.1:n.1321A>G
ENST00000547078.5:c.213A>G (DNM1L)
ENST00000547312.5:c.1470A>G (DNM1L)	ENSP00000448610.1:p.Glu490=
ENST00000548151.1:n.286A>G (DNM1L)
ENST00000549701.5:c.1470A>G (DNM1L)	ENSP00000450399.1:p.Glu490=
ENST00000550093.5:n.157A>G (DNM1L)
ENST00000551673.5:n.460-6219T>C (YARS2)
ENST00000552743.1:n.173A>G (DNM1L)
ENST00000553257.5:c.1509A>G (DNM1L)	ENSP00000449089.1:p.Glu503=
NM_001278463.1:c.1470A>G (DNM1L)	NP_001265392.1:p.Glu490=
NM_001278464.1:c.1509A>G (DNM1L)	NP_001265393.1:p.Glu503=
NM_001278465.1:c.1509A>G (DNM1L)	NP_001265394.1:p.Glu503=
NM_001278466.1:c.861A>G (DNM1L)	NP_001265395.1:p.Glu287=
NM_005690.4:c.1470A>G (DNM1L)	NP_005681.2:p.Glu490=
NM_012062.4:c.1470A>G (DNM1L)	NP_036192.2:p.Glu490=
NM_012063.3:c.1470A>G (DNM1L)	NP_036193.2:p.Glu490=
XM_005253282.3:c.1509A>G (DNM1L)	XP_005253339.1:p.Glu503=
XM_005253283.3:c.1023A>G (DNM1L)	XP_005253340.1:p.Glu341=
XM_011520543.1:c.1509A>G (DNM1L)	XP_011518845.1:p.Glu503=
XM_011520544.1:c.813A>G (DNM1L)	XP_011518846.1:p.Glu271=
XR_242891.3:n.1775-2049T>C (YARS2)
XR_242892.3:n.1650-8373T>C (YARS2)
XR_429036.1:n.1650-2049T>C (YARS2)
XR_931297.1:n.1775-2049T>C (YARS2)
XR_931298.1:n.1650-2049T>C (YARS2)
XR_931299.1:n.1650-6219T>C (YARS2)
NM_001330380.1:c.1509A>G (DNM1L)	NP_001317309.1:p.Glu503=
XM_011520543.3:c.1509A>G (DNM1L)	XP_011518845.1:p.Glu503=
XM_011520544.2:c.813A>G (DNM1L)	XP_011518846.1:p.Glu271=
XM_017018663.2:c.813A>G (DNM1L)	XP_016874152.1:p.Glu271=
XM_017018664.1:c.813A>G (DNM1L)	XP_016874153.1:p.Glu271=
XM_017018665.1:c.813A>G (DNM1L)	XP_016874154.1:p.Glu271=
XR_001748730.2:n.2272-8373T>C (YARS2)
XR_002957331.1:n.2147-6219T>C (YARS2)
XR_242892.5:n.2147-8373T>C (YARS2)
NM_012062.5:c.1470A>G (DNM1L) MANE Select	NP_036192.2:p.Glu490=
NM_001278463.2:c.1470A>G (DNM1L)	NP_001265392.1:p.Glu490=
NM_001278464.2:c.1509A>G (DNM1L) MANE Plus Clinical	NP_001265393.1:p.Glu503=
NM_001278465.2:c.1509A>G (DNM1L)	NP_001265394.1:p.Glu503=
NM_001278466.2:c.861A>G (DNM1L)	NP_001265395.1:p.Glu287=
NM_001330380.2:c.1509A>G (DNM1L)	NP_001317309.1:p.Glu503=
NM_005690.5:c.1470A>G (DNM1L)	NP_005681.2:p.Glu490=
NM_012063.4:c.1470A>G (DNM1L)	NP_036193.2:p.Glu490=