Canonical Allele Identifier: CA10641930

Gene: DNM1L YARS2

Linked Data

• ClinVar Variation Id: 308403
• ClinVar RCV Id: RCV000326445 ; RCV000364831 ; RCV000407287
• dbSNP Id: rs77298476
• gnomAD v2: 12-32896737-A-C
• gnomAD v3: 12-32743803-A-C
• gnomAD v4: 12-32743803-A-C
• MyVariant Identifiers: chr12:g.32896737A>C (hg19) ; chr12:g.32743803A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32743803A>C , CM000674.2:g.32743803A>C	GRCh38
NC_000012.11:g.32896737A>C , CM000674.1:g.32896737A>C	GRCh37
NC_000012.10:g.32788004A>C	NCBI36
NG_012219.1:g.69601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*1859A>C (DNM1L)	ENSP00000390090.2:n.*1859A>C
ENST00000546757.6:c.*2212A>C (DNM1L)	ENSP00000448105.2:n.*2212A>C
ENST00000547078.6:c.*1201A>C (DNM1L)	ENSP00000448802.2:n.*1201A>C
ENST00000547719.2:n.4204A>C (DNM1L)
ENST00000547932.6:c.*1970A>C (DNM1L)	ENSP00000515272.1:n.*1970A>C
ENST00000548750.6:c.*393A>C (DNM1L)	ENSP00000447788.2:n.*393A>C
ENST00000550011.6:c.*2556A>C (DNM1L)	ENSP00000515261.1:n.*2556A>C
ENST00000551076.6:c.*2188A>C (DNM1L)	ENSP00000515275.1:n.*2188A>C
ENST00000551643.6:c.*2435A>C (DNM1L)	ENSP00000450401.1:n.*2435A>C
ENST00000703338.1:c.*393A>C (DNM1L)	ENSP00000515264.1:n.*393A>C
ENST00000703360.1:c.*2290A>C (DNM1L)	ENSP00000515270.1:n.*2290A>C
ENST00000703361.1:c.*393A>C (DNM1L)	ENSP00000515273.1:n.*393A>C
ENST00000703362.1:c.*1892A>C (DNM1L)	ENSP00000515274.1:n.*1892A>C
ENST00000703364.1:n.4302A>C (DNM1L)
ENST00000703368.1:c.*2118A>C (DNM1L)	ENSP00000515278.1:n.*2118A>C
ENST00000703369.1:c.2202A>C (DNM1L)	ENSP00000515279.1:n.2202A>C
ENST00000703371.1:c.*393A>C (DNM1L)	ENSP00000515281.1:n.*393A>C
ENST00000549701.6:c.*393A>C (DNM1L) MANE Select	ENSP00000450399.1:n.*393A>C
ENST00000553257.6:c.*393A>C (DNM1L) MANE Plus Clinical	ENSP00000449089.1:n.*393A>C
ENST00000266481.10:c.*393A>C (DNM1L)	ENSP00000266481.6:n.*393A>C
ENST00000358214.9:c.*393A>C (DNM1L)	ENSP00000350948.5:n.*393A>C
ENST00000381000.8:c.*393A>C (DNM1L)	ENSP00000370388.4:n.*393A>C
ENST00000414834.6:c.*393A>C (DNM1L)	ENSP00000404160.2:n.*393A>C
ENST00000452533.6:c.*393A>C (DNM1L)	ENSP00000415131.2:n.*393A>C
ENST00000546757.5:c.2377A>C (DNM1L)	ENSP00000448105.1:n.2377A>C
ENST00000551673.5:n.459+3273T>G (YARS2)
NM_001278463.1:c.*393A>C (DNM1L)	NP_001265392.1:n.*393A>C
NM_001278464.1:c.*393A>C (DNM1L)	NP_001265393.1:n.*393A>C
NM_001278465.1:c.*393A>C (DNM1L)	NP_001265394.1:n.*393A>C
NM_001278466.1:c.*393A>C (DNM1L)	NP_001265395.1:n.*393A>C
NM_005690.4:c.*393A>C (DNM1L)	NP_005681.2:n.*393A>C
NM_012062.4:c.*393A>C (DNM1L)	NP_036192.2:n.*393A>C
NM_012063.3:c.*393A>C (DNM1L)	NP_036193.2:n.*393A>C
XM_005253282.3:c.*393A>C (DNM1L)	XP_005253339.1:n.*393A>C
XM_005253283.3:c.*393A>C (DNM1L)	XP_005253340.1:n.*393A>C
XM_011520543.1:c.*393A>C (DNM1L)	XP_011518845.1:n.*393A>C
XM_011520544.1:c.*393A>C (DNM1L)	XP_011518846.1:n.*393A>C
XR_242891.3:n.1774+1877T>G (YARS2)
XR_242892.3:n.1649+3273T>G (YARS2)
XR_429036.1:n.1649+3273T>G (YARS2)
XR_931297.1:n.1774+1877T>G (YARS2)
XR_931298.1:n.1649+3273T>G (YARS2)
XR_931299.1:n.1649+3273T>G (YARS2)
NM_001330380.1:c.*393A>C (DNM1L)	NP_001317309.1:n.*393A>C
XM_011520543.3:c.*393A>C (DNM1L)	XP_011518845.1:n.*393A>C
XM_011520544.2:c.*393A>C (DNM1L)	XP_011518846.1:n.*393A>C
XM_017018663.2:c.*393A>C (DNM1L)	XP_016874152.1:n.*393A>C
XM_017018664.1:c.*393A>C (DNM1L)	XP_016874153.1:n.*393A>C
XM_017018665.1:c.*393A>C (DNM1L)	XP_016874154.1:n.*393A>C
XR_001748730.2:n.2271+1877T>G (YARS2)
XR_002957331.1:n.2146+3273T>G (YARS2)
XR_242892.5:n.2146+3273T>G (YARS2)
NM_012062.5:c.*393A>C (DNM1L) MANE Select	NP_036192.2:n.*393A>C
NM_001278463.2:c.*393A>C (DNM1L)	NP_001265392.1:n.*393A>C
NM_001278464.2:c.*393A>C (DNM1L) MANE Plus Clinical	NP_001265393.1:n.*393A>C
NM_001278465.2:c.*393A>C (DNM1L)	NP_001265394.1:n.*393A>C
NM_001278466.2:c.*393A>C (DNM1L)	NP_001265395.1:n.*393A>C
NM_001330380.2:c.*393A>C (DNM1L)	NP_001317309.1:n.*393A>C
NM_005690.5:c.*393A>C (DNM1L)	NP_005681.2:n.*393A>C
NM_012063.4:c.*393A>C (DNM1L)	NP_036193.2:n.*393A>C