Canonical Allele Identifier: CA375011051

Gene: DNM1

Linked Data

• ClinVar Variation Id: 1485322
• ClinVar RCV Id: RCV002008575
• dbSNP Id: rs2131152872
• MyVariant Identifiers: chr9:g.130981412G>A (hg19) ; chr9:g.128219133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128219133G>A , CM000671.2:g.128219133G>A	GRCh38
NC_000009.11:g.130981412G>A , CM000671.1:g.130981412G>A	GRCh37
NC_000009.10:g.130021233G>A	NCBI36
NG_029726.1:g.20750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706053.1:c.470G>A	ENSP00000516205.1:p.Arg157Gln
ENST00000706054.1:c.105G>A
ENST00000372923.8:c.470G>A MANE Select	ENSP00000362014.4:p.Arg157Gln
ENST00000634267.2:c.470G>A	ENSP00000489096.1:p.Arg157Gln
ENST00000636280.1:c.470G>A	ENSP00000490285.1:p.Arg157Gln
ENST00000637999.1:c.297G>A
ENST00000341179.11:c.470G>A	ENSP00000345680.7:p.Arg157Gln
ENST00000372923.7:c.470G>A	ENSP00000362014.3:p.Arg157Gln
ENST00000393594.7:c.470G>A	ENSP00000377219.3:p.Arg157Gln
ENST00000441149.6:n.271G>A
ENST00000475805.5:c.470G>A	ENSP00000419225.1:p.Arg157Gln
ENST00000486160.3:c.470G>A	ENSP00000420045.1:p.Arg157Gln
ENST00000627061.2:c.470G>A	ENSP00000486437.1:p.Arg157Gln
ENST00000627543.2:c.470G>A	ENSP00000487310.1:p.Arg157Gln
ENST00000628346.2:c.470G>A	ENSP00000486525.1:p.Arg157Gln
ENST00000634267.1:c.470G>A	ENSP00000489096.1:p.Arg157Gln
NM_001005336.2:c.470G>A	NP_001005336.1:p.Arg157Gln
NM_001288737.1:c.470G>A	NP_001275666.1:p.Arg157Gln
NM_001288738.1:c.470G>A	NP_001275667.1:p.Arg157Gln
NM_001288739.1:c.470G>A	NP_001275668.1:p.Arg157Gln
NM_004408.3:c.470G>A	NP_004399.2:p.Arg157Gln
XM_005251763.1:c.470G>A	XP_005251820.1:p.Arg157Gln
XM_005251764.1:c.470G>A	XP_005251821.1:p.Arg157Gln
XM_005251768.1:c.470G>A	XP_005251825.1:p.Arg157Gln
XM_005251769.1:c.470G>A	XP_005251826.1:p.Arg157Gln
XM_006716992.1:c.470G>A	XP_006717055.1:p.Arg157Gln
XM_006716993.1:c.470G>A	XP_006717056.1:p.Arg157Gln
XM_011518334.1:c.470G>A	XP_011516636.1:p.Arg157Gln
XM_011518335.1:c.470G>A	XP_011516637.1:p.Arg157Gln
XM_011518336.1:c.470G>A	XP_011516638.1:p.Arg157Gln
XM_011518337.1:c.470G>A	XP_011516639.1:p.Arg157Gln
XM_011518338.1:c.470G>A	XP_011516640.1:p.Arg157Gln
XR_242572.1:n.586G>A
XR_242573.2:n.586G>A
XR_929729.1:n.586G>A
XR_929730.1:n.586G>A
XM_005251763.3:c.470G>A	XP_005251820.1:p.Arg157Gln
XM_005251768.3:c.470G>A	XP_005251825.1:p.Arg157Gln
XM_005251769.3:c.470G>A	XP_005251826.1:p.Arg157Gln
XM_006716992.3:c.470G>A	XP_006717055.1:p.Arg157Gln
XM_006716993.2:c.470G>A	XP_006717056.1:p.Arg157Gln
XM_011518335.3:c.470G>A	XP_011516637.1:p.Arg157Gln
XM_011518336.3:c.470G>A	XP_011516638.1:p.Arg157Gln
XM_017014369.2:c.470G>A	XP_016869858.1:p.Arg157Gln
XM_017014370.2:c.470G>A	XP_016869859.1:p.Arg157Gln
XM_017014371.2:c.470G>A	XP_016869860.1:p.Arg157Gln
XM_017014372.2:c.470G>A	XP_016869861.1:p.Arg157Gln
XM_017014373.2:c.470G>A	XP_016869862.1:p.Arg157Gln
XR_001746219.2:n.562G>A
XR_001746220.2:n.562G>A
XR_001746221.2:n.562G>A
XR_001746222.2:n.562G>A
NM_001005336.3:c.470G>A	NP_001005336.1:p.Arg157Gln
NM_001288737.2:c.470G>A	NP_001275666.1:p.Arg157Gln
NM_001288738.2:c.470G>A	NP_001275667.1:p.Arg157Gln
NM_001288739.2:c.470G>A	NP_001275668.1:p.Arg157Gln
NM_001374269.1:c.470G>A	NP_001361198.1:p.Arg157Gln
NM_004408.4:c.470G>A MANE Select	NP_004399.2:p.Arg157Gln