Canonical Allele Identifier: CA6507237

Gene: DNM1L

Linked Data

• ClinVar Variation Id: 260165
• ClinVar RCV Id: RCV000250836 ; RCV000675856 ; RCV001660304 ; RCV001660303
• dbSNP Id: rs10844308
• ExAC: 12:32854366 A / C
• gnomAD v2: 12-32854366-A-C
• gnomAD v3: 12-32701432-A-C
• gnomAD v4: 12-32701432-A-C
• MyVariant Identifiers: chr12:g.32854366A>C (hg19) ; chr12:g.32701432A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32701432A>C , CM000674.2:g.32701432A>C	GRCh38
NC_000012.11:g.32854366A>C , CM000674.1:g.32854366A>C	GRCh37
NC_000012.10:g.32745633A>C	NCBI36
NG_012219.1:g.27230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.120A>C	ENSP00000390090.2:p.Ser40=
ENST00000546757.6:c.120A>C	ENSP00000448105.2:p.Ser40=
ENST00000547078.6:c.120A>C	ENSP00000448802.2:p.Ser40=
ENST00000547719.2:n.211A>C
ENST00000547932.6:c.120A>C	ENSP00000515272.1:p.Ser40=
ENST00000548671.6:c.120A>C	ENSP00000515271.1:p.Ser40=
ENST00000548750.6:c.120A>C	ENSP00000447788.2:p.Ser40=
ENST00000549926.6:c.-328A>C	ENSP00000515263.1:n.-328A>C
ENST00000550011.6:c.120A>C	ENSP00000515261.1:p.Ser40=
ENST00000550093.6:n.75A>C
ENST00000551076.6:c.120A>C	ENSP00000515275.1:p.Ser40=
ENST00000551476.6:c.120A>C	ENSP00000447845.2:p.Ser40=
ENST00000551643.6:c.120A>C	ENSP00000450401.1:p.Ser40=
ENST00000703337.1:c.120A>C	ENSP00000515262.1:p.Ser40=
ENST00000703338.1:c.-367A>C	ENSP00000515264.1:n.-367A>C
ENST00000703360.1:c.120A>C	ENSP00000515270.1:p.Ser40=
ENST00000703361.1:c.120A>C	ENSP00000515273.1:p.Ser40=
ENST00000703362.1:c.120A>C	ENSP00000515274.1:p.Ser40=
ENST00000703363.1:n.199A>C
ENST00000703364.1:n.183A>C
ENST00000703365.1:c.120A>C	ENSP00000515276.1:p.Ser40=
ENST00000703366.1:n.164A>C
ENST00000703367.1:c.120A>C	ENSP00000515277.1:p.Ser40=
ENST00000703368.1:c.120A>C	ENSP00000515278.1:p.Ser40=
ENST00000703369.1:c.120A>C	ENSP00000515279.1:p.Ser40=
ENST00000703370.1:c.-328A>C	ENSP00000515280.1:n.-328A>C
ENST00000703371.1:c.-328A>C	ENSP00000515281.1:n.-328A>C
ENST00000703372.1:c.-252A>C	ENSP00000515282.1:n.-252A>C
ENST00000549701.6:c.120A>C MANE Select	ENSP00000450399.1:p.Ser40=
ENST00000553257.6:c.120A>C MANE Plus Clinical	ENSP00000449089.1:p.Ser40=
ENST00000266481.10:c.120A>C	ENSP00000266481.6:p.Ser40=
ENST00000358214.9:c.120A>C	ENSP00000350948.5:p.Ser40=
ENST00000381000.8:c.120A>C	ENSP00000370388.4:p.Ser40=
ENST00000413295.6:c.120A>C	ENSP00000396030.2:p.Ser40=
ENST00000414834.6:c.-86A>C	ENSP00000404160.2:n.-86A>C
ENST00000434676.6:c.120A>C	ENSP00000390090.2:p.Ser40=
ENST00000452533.6:c.120A>C	ENSP00000415131.2:p.Ser40=
ENST00000546649.5:c.120A>C	ENSP00000448936.1:p.Ser40=
ENST00000546757.5:c.18A>C	ENSP00000448105.1:p.Ser6=
ENST00000547312.5:c.120A>C	ENSP00000448610.1:p.Ser40=
ENST00000547932.5:n.164A>C
ENST00000548671.5:n.183A>C
ENST00000548750.5:c.120A>C	ENSP00000447788.1:p.Ser40=
ENST00000549701.5:c.120A>C	ENSP00000450399.1:p.Ser40=
ENST00000549926.5:n.298A>C
ENST00000550011.5:n.168A>C
ENST00000550154.5:c.120A>C	ENSP00000447013.1:p.Ser40=
ENST00000551076.5:n.168A>C
ENST00000551476.5:c.120A>C	ENSP00000447845.1:p.Ser40=
ENST00000551643.5:c.120A>C	ENSP00000450401.1:p.Ser40=
ENST00000553257.5:c.120A>C	ENSP00000449089.1:p.Ser40=
NM_001278463.1:c.120A>C	NP_001265392.1:p.Ser40=
NM_001278464.1:c.120A>C	NP_001265393.1:p.Ser40=
NM_001278465.1:c.120A>C	NP_001265394.1:p.Ser40=
NM_001278466.1:c.-86A>C	NP_001265395.1:n.-86A>C
NM_005690.4:c.120A>C	NP_005681.2:p.Ser40=
NM_012062.4:c.120A>C	NP_036192.2:p.Ser40=
NM_012063.3:c.120A>C	NP_036193.2:p.Ser40=
XM_005253282.3:c.120A>C	XP_005253339.1:p.Ser40=
XM_005253283.3:c.-328A>C	XP_005253340.1:n.-328A>C
XM_011520543.1:c.120A>C	XP_011518845.1:p.Ser40=
XM_011520544.1:c.-375A>C	XP_011518846.1:n.-375A>C
NM_001330380.1:c.120A>C	NP_001317309.1:p.Ser40=
XM_011520543.3:c.120A>C	XP_011518845.1:p.Ser40=
XM_011520544.2:c.-375A>C	XP_011518846.1:n.-375A>C
XM_017018663.2:c.-375A>C	XP_016874152.1:n.-375A>C
XM_017018664.1:c.-375A>C	XP_016874153.1:n.-375A>C
XM_017018665.1:c.-375A>C	XP_016874154.1:n.-375A>C
NM_012062.5:c.120A>C MANE Select	NP_036192.2:p.Ser40=
NM_001278463.2:c.120A>C	NP_001265392.1:p.Ser40=
NM_001278464.2:c.120A>C MANE Plus Clinical	NP_001265393.1:p.Ser40=
NM_001278465.2:c.120A>C	NP_001265394.1:p.Ser40=
NM_001278466.2:c.-86A>C	NP_001265395.1:n.-86A>C
NM_001330380.2:c.120A>C	NP_001317309.1:p.Ser40=
NM_005690.5:c.120A>C	NP_005681.2:p.Ser40=
NM_012063.4:c.120A>C	NP_036193.2:p.Ser40=