Canonical Allele Identifier: CA6507465

Gene: DNM1L YARS2

Linked Data

• ClinVar Variation Id: 1664307
• ClinVar RCV Id: RCV002181708
• dbSNP Id: rs762644536
• ExAC: 12:32883937 T / C
• gnomAD v2: 12-32883937-T-C
• gnomAD v4: 12-32731003-T-C
• MyVariant Identifiers: chr12:g.32883937T>C (hg19) ; chr12:g.32731003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32731003T>C , CM000674.2:g.32731003T>C	GRCh38
NC_000012.11:g.32883937T>C , CM000674.1:g.32883937T>C	GRCh37
NC_000012.10:g.32775204T>C	NCBI36
NG_012219.1:g.56801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*446-11T>C (DNM1L)	ENSP00000390090.2:n.*446-11T>C
ENST00000546757.6:c.*766-11T>C (DNM1L)	ENSP00000448105.2:n.*766-11T>C
ENST00000547078.6:c.1119-11T>C (DNM1L)	ENSP00000448802.2:n.1119-11T>C
ENST00000547719.2:n.2713-11T>C (DNM1L)
ENST00000547932.6:c.*446-11T>C (DNM1L)	ENSP00000515272.1:n.*446-11T>C
ENST00000548671.6:c.*627-11T>C (DNM1L)	ENSP00000515271.1:n.*627-11T>C
ENST00000548750.6:c.993-11T>C (DNM1L)	ENSP00000447788.2:n.993-11T>C
ENST00000549926.6:c.633-11T>C (DNM1L)	ENSP00000515263.1:n.633-11T>C
ENST00000550011.6:c.*1070-11T>C (DNM1L)	ENSP00000515261.1:n.*1070-11T>C
ENST00000550093.6:n.1167-11T>C (DNM1L)
ENST00000551076.6:c.*697-11T>C (DNM1L)	ENSP00000515275.1:n.*697-11T>C
ENST00000551476.6:c.1029-11T>C (DNM1L)	ENSP00000447845.2:n.1029-11T>C
ENST00000551643.6:c.*911-11T>C (DNM1L)	ENSP00000450401.1:n.*911-11T>C
ENST00000703337.1:c.*877-11T>C (DNM1L)	ENSP00000515262.1:n.*877-11T>C
ENST00000703338.1:c.633-11T>C (DNM1L)	ENSP00000515264.1:n.633-11T>C
ENST00000703360.1:c.*766-11T>C (DNM1L)	ENSP00000515270.1:n.*766-11T>C
ENST00000703361.1:c.711-11T>C (DNM1L)	ENSP00000515273.1:n.711-11T>C
ENST00000703362.1:c.*446-11T>C (DNM1L)	ENSP00000515274.1:n.*446-11T>C
ENST00000703363.1:n.2701-11T>C (DNM1L)
ENST00000703364.1:n.2778-11T>C (DNM1L)
ENST00000703365.1:c.1095T>C (DNM1L)	ENSP00000515276.1:p.His365=
ENST00000703366.1:n.2129T>C (DNM1L)
ENST00000703367.1:c.1080-11T>C (DNM1L)	ENSP00000515277.1:n.1080-11T>C
ENST00000703368.1:c.*627-11T>C (DNM1L)	ENSP00000515278.1:n.*627-11T>C
ENST00000703369.1:c.711-11T>C (DNM1L)	ENSP00000515279.1:n.711-11T>C
ENST00000703370.1:c.633-11T>C (DNM1L)	ENSP00000515280.1:n.633-11T>C
ENST00000703371.1:c.633-11T>C (DNM1L)	ENSP00000515281.1:n.633-11T>C
ENST00000703372.1:c.873-11T>C (DNM1L)	ENSP00000515282.1:n.873-11T>C
ENST00000549701.6:c.1080-11T>C (DNM1L) MANE Select	ENSP00000450399.1:n.1080-11T>C
ENST00000553257.6:c.1119-11T>C (DNM1L) MANE Plus Clinical	ENSP00000449089.1:n.1119-11T>C
ENST00000266481.10:c.1080-11T>C (DNM1L)	ENSP00000266481.6:n.1080-11T>C
ENST00000358214.9:c.1119-11T>C (DNM1L)	ENSP00000350948.5:n.1119-11T>C
ENST00000381000.8:c.1119-11T>C (DNM1L)	ENSP00000370388.4:n.1119-11T>C
ENST00000413295.6:c.*329-11T>C (DNM1L)	ENSP00000396030.2:n.*329-11T>C
ENST00000414834.6:c.471-11T>C (DNM1L)	ENSP00000404160.2:n.471-11T>C
ENST00000434676.6:c.*446-11T>C (DNM1L)	ENSP00000390090.2:n.*446-11T>C
ENST00000452533.6:c.1080-11T>C (DNM1L)	ENSP00000415131.2:n.1080-11T>C
ENST00000546649.5:c.*322-11T>C (DNM1L)	ENSP00000448936.1:n.*322-11T>C
ENST00000546757.5:c.931-11T>C (DNM1L)	ENSP00000448105.1:n.931-11T>C
ENST00000547312.5:c.1080-11T>C (DNM1L)	ENSP00000448610.1:n.1080-11T>C
ENST00000549701.5:c.1080-11T>C (DNM1L)	ENSP00000450399.1:n.1080-11T>C
ENST00000551673.5:n.460-3484A>G (YARS2)
ENST00000553257.5:c.1119-11T>C (DNM1L)	ENSP00000449089.1:n.1119-11T>C
NM_001278463.1:c.1080-11T>C (DNM1L)	NP_001265392.1:n.1080-11T>C
NM_001278464.1:c.1119-11T>C (DNM1L)	NP_001265393.1:n.1119-11T>C
NM_001278465.1:c.1119-11T>C (DNM1L)	NP_001265394.1:n.1119-11T>C
NM_001278466.1:c.471-11T>C (DNM1L)	NP_001265395.1:n.471-11T>C
NM_005690.4:c.1080-11T>C (DNM1L)	NP_005681.2:n.1080-11T>C
NM_012062.4:c.1080-11T>C (DNM1L)	NP_036192.2:n.1080-11T>C
NM_012063.3:c.1080-11T>C (DNM1L)	NP_036193.2:n.1080-11T>C
XM_005253282.3:c.1119-11T>C (DNM1L)	XP_005253339.1:n.1119-11T>C
XM_005253283.3:c.633-11T>C (DNM1L)	XP_005253340.1:n.633-11T>C
XM_011520543.1:c.1119-11T>C (DNM1L)	XP_011518845.1:n.1119-11T>C
XM_011520544.1:c.423-11T>C (DNM1L)	XP_011518846.1:n.423-11T>C
XR_242891.3:n.1832+629A>G (YARS2)
XR_242892.3:n.1650-5638A>G (YARS2)
XR_429036.1:n.1707+629A>G (YARS2)
XR_931297.1:n.1832+629A>G (YARS2)
XR_931298.1:n.1707+629A>G (YARS2)
XR_931299.1:n.1650-3484A>G (YARS2)
NM_001330380.1:c.1119-11T>C (DNM1L)	NP_001317309.1:n.1119-11T>C
XM_011520543.3:c.1119-11T>C (DNM1L)	XP_011518845.1:n.1119-11T>C
XM_011520544.2:c.423-11T>C (DNM1L)	XP_011518846.1:n.423-11T>C
XM_017018663.2:c.423-11T>C (DNM1L)	XP_016874152.1:n.423-11T>C
XM_017018664.1:c.423-11T>C (DNM1L)	XP_016874153.1:n.423-11T>C
XM_017018665.1:c.423-11T>C (DNM1L)	XP_016874154.1:n.423-11T>C
XR_001748730.2:n.2272-5638A>G (YARS2)
XR_002957331.1:n.2147-3484A>G (YARS2)
XR_242892.5:n.2147-5638A>G (YARS2)
NM_012062.5:c.1080-11T>C (DNM1L) MANE Select	NP_036192.2:n.1080-11T>C
NM_001278463.2:c.1080-11T>C (DNM1L)	NP_001265392.1:n.1080-11T>C
NM_001278464.2:c.1119-11T>C (DNM1L) MANE Plus Clinical	NP_001265393.1:n.1119-11T>C
NM_001278465.2:c.1119-11T>C (DNM1L)	NP_001265394.1:n.1119-11T>C
NM_001278466.2:c.471-11T>C (DNM1L)	NP_001265395.1:n.471-11T>C
NM_001330380.2:c.1119-11T>C (DNM1L)	NP_001317309.1:n.1119-11T>C
NM_005690.5:c.1080-11T>C (DNM1L)	NP_005681.2:n.1080-11T>C
NM_012063.4:c.1080-11T>C (DNM1L)	NP_036193.2:n.1080-11T>C