Canonical Allele Identifier: CA384357470

Gene: DNM1L YARS2

Linked Data

• COSMIC: COSM938820
• MyVariant Identifiers: chr12:g.32884055T>G (hg19) ; chr12:g.32731121T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32731121T>G , CM000674.2:g.32731121T>G	GRCh38
NC_000012.11:g.32884055T>G , CM000674.1:g.32884055T>G	GRCh37
NC_000012.10:g.32775322T>G	NCBI36
NG_012219.1:g.56919T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*553T>G (DNM1L)	ENSP00000390090.2:n.*553T>G
ENST00000546757.6:c.*873T>G (DNM1L)	ENSP00000448105.2:n.*873T>G
ENST00000547078.6:c.1226T>G (DNM1L)	ENSP00000448802.2:p.Ile409Ser
ENST00000547719.2:n.2820T>G (DNM1L)
ENST00000547932.6:c.*553T>G (DNM1L)	ENSP00000515272.1:n.*553T>G
ENST00000548671.6:c.*734T>G (DNM1L)	ENSP00000515271.1:n.*734T>G
ENST00000548750.6:c.1100T>G (DNM1L)	ENSP00000447788.2:p.Ile367Ser
ENST00000549926.6:c.740T>G (DNM1L)	ENSP00000515263.1:p.Ile247Ser
ENST00000550011.6:c.*1177T>G (DNM1L)	ENSP00000515261.1:n.*1177T>G
ENST00000550093.6:n.1274T>G (DNM1L)
ENST00000551076.6:c.*804T>G (DNM1L)	ENSP00000515275.1:n.*804T>G
ENST00000551476.6:c.1136T>G (DNM1L)	ENSP00000447845.2:p.Ile379Ser
ENST00000551643.6:c.*1018T>G (DNM1L)	ENSP00000450401.1:n.*1018T>G
ENST00000703337.1:c.*984T>G (DNM1L)	ENSP00000515262.1:n.*984T>G
ENST00000703338.1:c.740T>G (DNM1L)	ENSP00000515264.1:p.Ile247Ser
ENST00000703360.1:c.*873T>G (DNM1L)	ENSP00000515270.1:n.*873T>G
ENST00000703361.1:c.818T>G (DNM1L)	ENSP00000515273.1:p.Ile273Ser
ENST00000703362.1:c.*553T>G (DNM1L)	ENSP00000515274.1:n.*553T>G
ENST00000703363.1:n.2808T>G (DNM1L)
ENST00000703364.1:n.2885T>G (DNM1L)
ENST00000703365.1:c.*52T>G (DNM1L)	ENSP00000515276.1:n.*52T>G
ENST00000703366.1:n.2247T>G (DNM1L)
ENST00000703367.1:c.1187T>G (DNM1L)	ENSP00000515277.1:p.Ile396Ser
ENST00000703368.1:c.*734T>G (DNM1L)	ENSP00000515278.1:n.*734T>G
ENST00000703369.1:c.818T>G (DNM1L)	ENSP00000515279.1:p.Ile273Ser
ENST00000703370.1:c.740T>G (DNM1L)	ENSP00000515280.1:p.Ile247Ser
ENST00000703371.1:c.740T>G (DNM1L)	ENSP00000515281.1:p.Ile247Ser
ENST00000703372.1:c.980T>G (DNM1L)	ENSP00000515282.1:p.Ile327Ser
ENST00000549701.6:c.1187T>G (DNM1L) MANE Select	ENSP00000450399.1:p.Ile396Ser
ENST00000553257.6:c.1226T>G (DNM1L) MANE Plus Clinical	ENSP00000449089.1:p.Ile409Ser
ENST00000266481.10:c.1187T>G (DNM1L)	ENSP00000266481.6:p.Ile396Ser
ENST00000358214.9:c.1226T>G (DNM1L)	ENSP00000350948.5:p.Ile409Ser
ENST00000381000.8:c.1226T>G (DNM1L)	ENSP00000370388.4:p.Ile409Ser
ENST00000413295.6:c.*436T>G (DNM1L)	ENSP00000396030.2:n.*436T>G
ENST00000414834.6:c.578T>G (DNM1L)	ENSP00000404160.2:p.Ile193Ser
ENST00000452533.6:c.1187T>G (DNM1L)	ENSP00000415131.2:p.Ile396Ser
ENST00000546649.5:c.*429T>G (DNM1L)	ENSP00000448936.1:n.*429T>G
ENST00000546757.5:c.1038T>G (DNM1L)	ENSP00000448105.1:n.1038T>G
ENST00000547312.5:c.1187T>G (DNM1L)	ENSP00000448610.1:p.Ile396Ser
ENST00000549701.5:c.1187T>G (DNM1L)	ENSP00000450399.1:p.Ile396Ser
ENST00000551673.5:n.460-3602A>C (YARS2)
ENST00000553257.5:c.1226T>G (DNM1L)	ENSP00000449089.1:p.Ile409Ser
NM_001278463.1:c.1187T>G (DNM1L)	NP_001265392.1:p.Ile396Ser
NM_001278464.1:c.1226T>G (DNM1L)	NP_001265393.1:p.Ile409Ser
NM_001278465.1:c.1226T>G (DNM1L)	NP_001265394.1:p.Ile409Ser
NM_001278466.1:c.578T>G (DNM1L)	NP_001265395.1:p.Ile193Ser
NM_005690.4:c.1187T>G (DNM1L)	NP_005681.2:p.Ile396Ser
NM_012062.4:c.1187T>G (DNM1L)	NP_036192.2:p.Ile396Ser
NM_012063.3:c.1187T>G (DNM1L)	NP_036193.2:p.Ile396Ser
XM_005253282.3:c.1226T>G (DNM1L)	XP_005253339.1:p.Ile409Ser
XM_005253283.3:c.740T>G (DNM1L)	XP_005253340.1:p.Ile247Ser
XM_011520543.1:c.1226T>G (DNM1L)	XP_011518845.1:p.Ile409Ser
XM_011520544.1:c.530T>G (DNM1L)	XP_011518846.1:p.Ile177Ser
XR_242891.3:n.1832+511A>C (YARS2)
XR_242892.3:n.1650-5756A>C (YARS2)
XR_429036.1:n.1707+511A>C (YARS2)
XR_931297.1:n.1832+511A>C (YARS2)
XR_931298.1:n.1707+511A>C (YARS2)
XR_931299.1:n.1650-3602A>C (YARS2)
NM_001330380.1:c.1226T>G (DNM1L)	NP_001317309.1:p.Ile409Ser
XM_011520543.3:c.1226T>G (DNM1L)	XP_011518845.1:p.Ile409Ser
XM_011520544.2:c.530T>G (DNM1L)	XP_011518846.1:p.Ile177Ser
XM_017018663.2:c.530T>G (DNM1L)	XP_016874152.1:p.Ile177Ser
XM_017018664.1:c.530T>G (DNM1L)	XP_016874153.1:p.Ile177Ser
XM_017018665.1:c.530T>G (DNM1L)	XP_016874154.1:p.Ile177Ser
XR_001748730.2:n.2272-5756A>C (YARS2)
XR_002957331.1:n.2147-3602A>C (YARS2)
XR_242892.5:n.2147-5756A>C (YARS2)
NM_012062.5:c.1187T>G (DNM1L) MANE Select	NP_036192.2:p.Ile396Ser
NM_001278463.2:c.1187T>G (DNM1L)	NP_001265392.1:p.Ile396Ser
NM_001278464.2:c.1226T>G (DNM1L) MANE Plus Clinical	NP_001265393.1:p.Ile409Ser
NM_001278465.2:c.1226T>G (DNM1L)	NP_001265394.1:p.Ile409Ser
NM_001278466.2:c.578T>G (DNM1L)	NP_001265395.1:p.Ile193Ser
NM_001330380.2:c.1226T>G (DNM1L)	NP_001317309.1:p.Ile409Ser
NM_005690.5:c.1187T>G (DNM1L)	NP_005681.2:p.Ile396Ser
NM_012063.4:c.1187T>G (DNM1L)	NP_036193.2:p.Ile396Ser