Canonical Allele Identifier: CA384357364

Gene: DNM1L YARS2

Linked Data

• MyVariant Identifiers: chr12:g.32884006T>G (hg19) ; chr12:g.32731072T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32731072T>G , CM000674.2:g.32731072T>G	GRCh38
NC_000012.11:g.32884006T>G , CM000674.1:g.32884006T>G	GRCh37
NC_000012.10:g.32775273T>G	NCBI36
NG_012219.1:g.56870T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*504T>G (DNM1L)	ENSP00000390090.2:n.*504T>G
ENST00000546757.6:c.*824T>G (DNM1L)	ENSP00000448105.2:n.*824T>G
ENST00000547078.6:c.1177T>G (DNM1L)	ENSP00000448802.2:p.Ser393Ala
ENST00000547719.2:n.2771T>G (DNM1L)
ENST00000547932.6:c.*504T>G (DNM1L)	ENSP00000515272.1:n.*504T>G
ENST00000548671.6:c.*685T>G (DNM1L)	ENSP00000515271.1:n.*685T>G
ENST00000548750.6:c.1051T>G (DNM1L)	ENSP00000447788.2:p.Ser351Ala
ENST00000549926.6:c.691T>G (DNM1L)	ENSP00000515263.1:p.Ser231Ala
ENST00000550011.6:c.*1128T>G (DNM1L)	ENSP00000515261.1:n.*1128T>G
ENST00000550093.6:n.1225T>G (DNM1L)
ENST00000551076.6:c.*755T>G (DNM1L)	ENSP00000515275.1:n.*755T>G
ENST00000551476.6:c.1087T>G (DNM1L)	ENSP00000447845.2:p.Ser363Ala
ENST00000551643.6:c.*969T>G (DNM1L)	ENSP00000450401.1:n.*969T>G
ENST00000703337.1:c.*935T>G (DNM1L)	ENSP00000515262.1:n.*935T>G
ENST00000703338.1:c.691T>G (DNM1L)	ENSP00000515264.1:p.Ser231Ala
ENST00000703360.1:c.*824T>G (DNM1L)	ENSP00000515270.1:n.*824T>G
ENST00000703361.1:c.769T>G (DNM1L)	ENSP00000515273.1:p.Ser257Ala
ENST00000703362.1:c.*504T>G (DNM1L)	ENSP00000515274.1:n.*504T>G
ENST00000703363.1:n.2759T>G (DNM1L)
ENST00000703364.1:n.2836T>G (DNM1L)
ENST00000703365.1:c.*3T>G (DNM1L)	ENSP00000515276.1:n.*3T>G
ENST00000703366.1:n.2198T>G (DNM1L)
ENST00000703367.1:c.1138T>G (DNM1L)	ENSP00000515277.1:p.Ser380Ala
ENST00000703368.1:c.*685T>G (DNM1L)	ENSP00000515278.1:n.*685T>G
ENST00000703369.1:c.769T>G (DNM1L)	ENSP00000515279.1:p.Ser257Ala
ENST00000703370.1:c.691T>G (DNM1L)	ENSP00000515280.1:p.Ser231Ala
ENST00000703371.1:c.691T>G (DNM1L)	ENSP00000515281.1:p.Ser231Ala
ENST00000703372.1:c.931T>G (DNM1L)	ENSP00000515282.1:p.Ser311Ala
ENST00000549701.6:c.1138T>G (DNM1L) MANE Select	ENSP00000450399.1:p.Ser380Ala
ENST00000553257.6:c.1177T>G (DNM1L) MANE Plus Clinical	ENSP00000449089.1:p.Ser393Ala
ENST00000266481.10:c.1138T>G (DNM1L)	ENSP00000266481.6:p.Ser380Ala
ENST00000358214.9:c.1177T>G (DNM1L)	ENSP00000350948.5:p.Ser393Ala
ENST00000381000.8:c.1177T>G (DNM1L)	ENSP00000370388.4:p.Ser393Ala
ENST00000413295.6:c.*387T>G (DNM1L)	ENSP00000396030.2:n.*387T>G
ENST00000414834.6:c.529T>G (DNM1L)	ENSP00000404160.2:p.Ser177Ala
ENST00000452533.6:c.1138T>G (DNM1L)	ENSP00000415131.2:p.Ser380Ala
ENST00000546649.5:c.*380T>G (DNM1L)	ENSP00000448936.1:n.*380T>G
ENST00000546757.5:c.989T>G (DNM1L)	ENSP00000448105.1:n.989T>G
ENST00000547312.5:c.1138T>G (DNM1L)	ENSP00000448610.1:p.Ser380Ala
ENST00000549701.5:c.1138T>G (DNM1L)	ENSP00000450399.1:p.Ser380Ala
ENST00000551673.5:n.460-3553A>C (YARS2)
ENST00000553257.5:c.1177T>G (DNM1L)	ENSP00000449089.1:p.Ser393Ala
NM_001278463.1:c.1138T>G (DNM1L)	NP_001265392.1:p.Ser380Ala
NM_001278464.1:c.1177T>G (DNM1L)	NP_001265393.1:p.Ser393Ala
NM_001278465.1:c.1177T>G (DNM1L)	NP_001265394.1:p.Ser393Ala
NM_001278466.1:c.529T>G (DNM1L)	NP_001265395.1:p.Ser177Ala
NM_005690.4:c.1138T>G (DNM1L)	NP_005681.2:p.Ser380Ala
NM_012062.4:c.1138T>G (DNM1L)	NP_036192.2:p.Ser380Ala
NM_012063.3:c.1138T>G (DNM1L)	NP_036193.2:p.Ser380Ala
XM_005253282.3:c.1177T>G (DNM1L)	XP_005253339.1:p.Ser393Ala
XM_005253283.3:c.691T>G (DNM1L)	XP_005253340.1:p.Ser231Ala
XM_011520543.1:c.1177T>G (DNM1L)	XP_011518845.1:p.Ser393Ala
XM_011520544.1:c.481T>G (DNM1L)	XP_011518846.1:p.Ser161Ala
XR_242891.3:n.1832+560A>C (YARS2)
XR_242892.3:n.1650-5707A>C (YARS2)
XR_429036.1:n.1707+560A>C (YARS2)
XR_931297.1:n.1832+560A>C (YARS2)
XR_931298.1:n.1707+560A>C (YARS2)
XR_931299.1:n.1650-3553A>C (YARS2)
NM_001330380.1:c.1177T>G (DNM1L)	NP_001317309.1:p.Ser393Ala
XM_011520543.3:c.1177T>G (DNM1L)	XP_011518845.1:p.Ser393Ala
XM_011520544.2:c.481T>G (DNM1L)	XP_011518846.1:p.Ser161Ala
XM_017018663.2:c.481T>G (DNM1L)	XP_016874152.1:p.Ser161Ala
XM_017018664.1:c.481T>G (DNM1L)	XP_016874153.1:p.Ser161Ala
XM_017018665.1:c.481T>G (DNM1L)	XP_016874154.1:p.Ser161Ala
XR_001748730.2:n.2272-5707A>C (YARS2)
XR_002957331.1:n.2147-3553A>C (YARS2)
XR_242892.5:n.2147-5707A>C (YARS2)
NM_012062.5:c.1138T>G (DNM1L) MANE Select	NP_036192.2:p.Ser380Ala
NM_001278463.2:c.1138T>G (DNM1L)	NP_001265392.1:p.Ser380Ala
NM_001278464.2:c.1177T>G (DNM1L) MANE Plus Clinical	NP_001265393.1:p.Ser393Ala
NM_001278465.2:c.1177T>G (DNM1L)	NP_001265394.1:p.Ser393Ala
NM_001278466.2:c.529T>G (DNM1L)	NP_001265395.1:p.Ser177Ala
NM_001330380.2:c.1177T>G (DNM1L)	NP_001317309.1:p.Ser393Ala
NM_005690.5:c.1138T>G (DNM1L)	NP_005681.2:p.Ser380Ala
NM_012063.4:c.1138T>G (DNM1L)	NP_036193.2:p.Ser380Ala