Canonical Allele Identifier: CA384367791

Gene: DNM1L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32713327C>A , CM000674.2:g.32713327C>A	GRCh38
NC_000012.11:g.32866261C>A , CM000674.1:g.32866261C>A	GRCh37
NC_000012.10:g.32757528C>A	NCBI36
NG_012219.1:g.39125C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012062.5:c.575C>A MANE Select	NP_036192.2:p.Ala192Glu
ENST00000549701.6:c.575C>A MANE Select	ENSP00000450399.1:p.Ala192Glu
NM_001278464.2:c.614C>A MANE Plus Clinical	NP_001265393.1:p.Ala205Glu
ENST00000553257.6:c.614C>A MANE Plus Clinical	ENSP00000449089.1:p.Ala205Glu
NM_001278463.1:c.575C>A	NP_001265392.1:p.Ala192Glu
NM_001278463.2:c.575C>A	NP_001265392.1:p.Ala192Glu
NM_001278464.1:c.614C>A	NP_001265393.1:p.Ala205Glu
NM_001278465.1:c.614C>A	NP_001265394.1:p.Ala205Glu
NM_001278465.2:c.614C>A	NP_001265394.1:p.Ala205Glu
NM_001278466.1:c.131+5914C>A	NP_001265395.1:n.131+5914C>A
NM_001278466.2:c.131+5914C>A	NP_001265395.1:n.131+5914C>A
NM_001330380.1:c.614C>A	NP_001317309.1:p.Ala205Glu
NM_001330380.2:c.614C>A	NP_001317309.1:p.Ala205Glu
NM_005690.4:c.575C>A	NP_005681.2:p.Ala192Glu
NM_005690.5:c.575C>A	NP_005681.2:p.Ala192Glu
NM_012062.4:c.575C>A	NP_036192.2:p.Ala192Glu
NM_012063.3:c.575C>A	NP_036193.2:p.Ala192Glu
NM_012063.4:c.575C>A	NP_036193.2:p.Ala192Glu
ENST00000266481.10:c.575C>A	ENSP00000266481.6:p.Ala192Glu
ENST00000358214.9:c.614C>A	ENSP00000350948.5:p.Ala205Glu
ENST00000381000.8:c.614C>A	ENSP00000370388.4:p.Ala205Glu
ENST00000413295.6:c.488C>A	ENSP00000396030.2:p.Ala163Glu
ENST00000414834.6:c.131+5914C>A	ENSP00000404160.2:n.131+5914C>A
ENST00000434676.6:c.456+2312C>A	ENSP00000390090.2:n.456+2312C>A
ENST00000434676.7:c.456+2312C>A	ENSP00000390090.2:n.456+2312C>A
ENST00000452533.6:c.575C>A	ENSP00000415131.2:p.Ala192Glu
ENST00000546649.5:c.336+5914C>A	ENSP00000448936.1:n.336+5914C>A
ENST00000546757.5:c.426C>A	ENSP00000448105.1:n.426C>A
ENST00000546757.6:c.*261C>A	ENSP00000448105.2:n.*261C>A
ENST00000547078.6:c.614C>A	ENSP00000448802.2:p.Ala205Glu
ENST00000547312.5:c.575C>A	ENSP00000448610.1:p.Ala192Glu
ENST00000547548.1:n.81C>A
ENST00000547719.2:n.2208C>A
ENST00000547932.5:n.342-5316C>A
ENST00000547932.6:c.298-5316C>A	ENSP00000515272.1:n.298-5316C>A
ENST00000548671.5:n.731C>A
ENST00000548671.6:c.*122C>A	ENSP00000515271.1:n.*122C>A
ENST00000548750.5:c.488C>A	ENSP00000447788.1:p.Ala163Glu
ENST00000548750.6:c.488C>A	ENSP00000447788.2:p.Ala163Glu
ENST00000549701.5:c.575C>A	ENSP00000450399.1:p.Ala192Glu
ENST00000549926.6:c.128C>A	ENSP00000515263.1:p.Ala43Glu
ENST00000550011.6:c.*565C>A	ENSP00000515261.1:n.*565C>A
ENST00000550093.6:n.662C>A
ENST00000550154.5:c.503C>A	ENSP00000447013.1:p.Ala168Glu
ENST00000551076.6:c.*192C>A	ENSP00000515275.1:n.*192C>A
ENST00000551476.6:c.524C>A	ENSP00000447845.2:p.Ala175Glu
ENST00000551643.6:c.*406C>A	ENSP00000450401.1:n.*406C>A
ENST00000553257.5:c.614C>A	ENSP00000449089.1:p.Ala205Glu
ENST00000703337.1:c.*372C>A	ENSP00000515262.1:n.*372C>A
ENST00000703338.1:c.128C>A	ENSP00000515264.1:p.Ala43Glu
ENST00000703360.1:c.*261C>A	ENSP00000515270.1:n.*261C>A
ENST00000703361.1:c.251-5316C>A	ENSP00000515273.1:n.251-5316C>A
ENST00000703362.1:c.298-5316C>A	ENSP00000515274.1:n.298-5316C>A
ENST00000703363.1:n.2196C>A
ENST00000703364.1:n.2273C>A
ENST00000703365.1:c.575C>A	ENSP00000515276.1:p.Ala192Glu
ENST00000703366.1:n.1609C>A
ENST00000703367.1:c.575C>A	ENSP00000515277.1:p.Ala192Glu
ENST00000703368.1:c.*122C>A	ENSP00000515278.1:n.*122C>A
ENST00000703369.1:c.251-5316C>A	ENSP00000515279.1:n.251-5316C>A
ENST00000703370.1:c.128C>A	ENSP00000515280.1:p.Ala43Glu
ENST00000703371.1:c.128C>A	ENSP00000515281.1:p.Ala43Glu
ENST00000703372.1:c.368C>A	ENSP00000515282.1:p.Ala123Glu
XM_005253282.3:c.614C>A	XP_005253339.1:p.Ala205Glu
XM_005253283.3:c.128C>A	XP_005253340.1:p.Ala43Glu
XM_011520543.1:c.614C>A	XP_011518845.1:p.Ala205Glu
XM_011520543.3:c.614C>A	XP_011518845.1:p.Ala205Glu
XM_011520544.1:c.-39+2312C>A	XP_011518846.1:n.-39+2312C>A
XM_011520544.2:c.-39+2312C>A	XP_011518846.1:n.-39+2312C>A
XM_017018663.2:c.-39+2312C>A	XP_016874152.1:n.-39+2312C>A
XM_017018664.1:c.-39+2312C>A	XP_016874153.1:n.-39+2312C>A
XM_017018665.1:c.-39+2312C>A	XP_016874154.1:n.-39+2312C>A