Canonical Allele Identifier: CA5257731

Gene: DNM1 CIZ1

Linked Data

• ClinVar Variation Id: 391413
• ClinVar RCV Id: RCV000548892 ; RCV001698363
• dbSNP Id: rs142432944
• ExAC: 9:130965866 C / T
• gnomAD v2: 9-130965866-C-T
• gnomAD v3: 9-128203587-C-T
• gnomAD v4: 9-128203587-C-T
• MyVariant Identifiers: chr9:g.130965866C>T (hg19) ; chr9:g.128203587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128203587C>T , CM000671.2:g.128203587C>T	GRCh38
NC_000009.11:g.130965866C>T , CM000671.1:g.130965866C>T	GRCh37
NC_000009.10:g.130005687C>T	NCBI36
NG_029726.1:g.5204C>T
NG_032983.1:g.5797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706053.1:c.117C>T (DNM1)	ENSP00000516205.1:p.Gly39=
ENST00000372923.8:c.117C>T (DNM1) MANE Select	ENSP00000362014.4:p.Gly39=
ENST00000634267.2:c.117C>T (DNM1)	ENSP00000489096.1:p.Gly39=
ENST00000635766.1:n.49+11884C>T (DNM1)
ENST00000636280.1:c.117C>T (DNM1)	ENSP00000490285.1:p.Gly39=
ENST00000636874.1:n.60+11807C>T (DNM1)
ENST00000341179.11:c.117C>T (DNM1)	ENSP00000345680.7:p.Gly39=
ENST00000372923.7:c.117C>T (DNM1)	ENSP00000362014.3:p.Gly39=
ENST00000372948.7:c.-6+599G>A (CIZ1)	ENSP00000362039.3:n.-6+599G>A
ENST00000393594.7:c.117C>T (DNM1)	ENSP00000377219.3:p.Gly39=
ENST00000475805.5:c.117C>T (DNM1)	ENSP00000419225.1:p.Gly39=
ENST00000486160.3:c.117C>T (DNM1)	ENSP00000420045.1:p.Gly39=
ENST00000627061.2:c.117C>T (DNM1)	ENSP00000486437.1:p.Gly39=
ENST00000627543.2:c.117C>T (DNM1)	ENSP00000487310.1:p.Gly39=
ENST00000628346.2:c.117C>T (DNM1)	ENSP00000486525.1:p.Gly39=
ENST00000634267.1:c.117C>T (DNM1)	ENSP00000489096.1:p.Gly39=
ENST00000634501.1:n.37+599G>A (CIZ1)
ENST00000634901.1:c.-501+481G>A (CIZ1)	ENSP00000489425.1:n.-501+481G>A
NM_001005336.2:c.117C>T (DNM1)	NP_001005336.1:p.Gly39=
NM_001131015.1:c.-6+599G>A (CIZ1)	NP_001124487.1:n.-6+599G>A
NM_001288737.1:c.117C>T (DNM1)	NP_001275666.1:p.Gly39=
NM_001288738.1:c.117C>T (DNM1)	NP_001275667.1:p.Gly39=
NM_001288739.1:c.117C>T (DNM1)	NP_001275668.1:p.Gly39=
NM_004408.3:c.117C>T (DNM1)	NP_004399.2:p.Gly39=
NM_012127.2:c.-6+599G>A (CIZ1)	NP_036259.2:n.-6+599G>A
XM_005251763.1:c.117C>T (DNM1)	XP_005251820.1:p.Gly39=
XM_005251764.1:c.117C>T (DNM1)	XP_005251821.1:p.Gly39=
XM_005251768.1:c.117C>T (DNM1)	XP_005251825.1:p.Gly39=
XM_005251769.1:c.117C>T (DNM1)	XP_005251826.1:p.Gly39=
XM_006716992.1:c.117C>T (DNM1)	XP_006717055.1:p.Gly39=
XM_006716993.1:c.117C>T (DNM1)	XP_006717056.1:p.Gly39=
XM_011518334.1:c.117C>T (DNM1)	XP_011516636.1:p.Gly39=
XM_011518335.1:c.117C>T (DNM1)	XP_011516637.1:p.Gly39=
XM_011518336.1:c.117C>T (DNM1)	XP_011516638.1:p.Gly39=
XM_011518337.1:c.117C>T (DNM1)	XP_011516639.1:p.Gly39=
XM_011518338.1:c.117C>T (DNM1)	XP_011516640.1:p.Gly39=
XR_242572.1:n.233C>T (DNM1)
XR_242573.2:n.233C>T (DNM1)
XR_929729.1:n.233C>T (DNM1)
XR_929730.1:n.233C>T (DNM1)
XM_005251763.3:c.117C>T (DNM1)	XP_005251820.1:p.Gly39=
XM_005251768.3:c.117C>T (DNM1)	XP_005251825.1:p.Gly39=
XM_005251769.3:c.117C>T (DNM1)	XP_005251826.1:p.Gly39=
XM_006716992.3:c.117C>T (DNM1)	XP_006717055.1:p.Gly39=
XM_006716993.2:c.117C>T (DNM1)	XP_006717056.1:p.Gly39=
XM_011518335.3:c.117C>T (DNM1)	XP_011516637.1:p.Gly39=
XM_011518336.3:c.117C>T (DNM1)	XP_011516638.1:p.Gly39=
XM_017014369.2:c.117C>T (DNM1)	XP_016869858.1:p.Gly39=
XM_017014370.2:c.117C>T (DNM1)	XP_016869859.1:p.Gly39=
XM_017014371.2:c.117C>T (DNM1)	XP_016869860.1:p.Gly39=
XM_017014372.2:c.117C>T (DNM1)	XP_016869861.1:p.Gly39=
XM_017014373.2:c.117C>T (DNM1)	XP_016869862.1:p.Gly39=
XR_001746219.2:n.209C>T (DNM1)
XR_001746220.2:n.209C>T (DNM1)
XR_001746221.2:n.209C>T (DNM1)
XR_001746222.2:n.209C>T (DNM1)
NM_001005336.3:c.117C>T (DNM1)	NP_001005336.1:p.Gly39=
NM_001131015.2:c.-6+599G>A (CIZ1)	NP_001124487.1:n.-6+599G>A
NM_001288737.2:c.117C>T (DNM1)	NP_001275666.1:p.Gly39=
NM_001288738.2:c.117C>T (DNM1)	NP_001275667.1:p.Gly39=
NM_001288739.2:c.117C>T (DNM1)	NP_001275668.1:p.Gly39=
NM_001374269.1:c.117C>T (DNM1)	NP_001361198.1:p.Gly39=
NM_004408.4:c.117C>T (DNM1) MANE Select	NP_004399.2:p.Gly39=
NM_012127.3:c.-6+599G>A (CIZ1)	NP_036259.2:n.-6+599G>A