Canonical Allele Identifier: CA515382404

Gene: SBF1

Linked Data

• dbSNP Id: rs2067196153
• gnomAD v3: 22-50455113-C-T
• gnomAD v4: 22-50455113-C-T
• MyVariant Identifiers: chr22:g.50893542C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455113C>T , CM000684.2:g.50455113C>T	GRCh38
NC_000022.10:g.50893542C>T , CM000684.1:g.50893542C>T	GRCh37
NC_000022.9:g.49240408C>T	NCBI36
NG_041810.1:g.24959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4506G>A	ENSP00000252027.8:p.Glu1502=
ENST00000418590.4:c.216G>A	ENSP00000401538.2:p.Glu72=
ENST00000470434.2:n.987G>A
ENST00000684986.1:c.4587G>A	ENSP00000509117.1:p.Glu1529=
ENST00000685180.1:n.2488+5421G>A
ENST00000685390.1:n.2552G>A
ENST00000685411.1:n.334G>A
ENST00000685592.1:c.818G>A
ENST00000685809.1:c.4497G>A	ENSP00000508863.1:p.Glu1499=
ENST00000686029.1:c.662G>A
ENST00000686191.1:n.3784G>A
ENST00000686222.1:c.*4006G>A	ENSP00000508737.1:n.*4006G>A
ENST00000686321.1:c.680G>A
ENST00000686427.1:c.*1519G>A	ENSP00000510379.1:n.*1519G>A
ENST00000686758.1:n.2327G>A
ENST00000686801.1:c.4572G>A	ENSP00000509915.1:p.Glu1524=
ENST00000686826.1:n.903G>A
ENST00000687016.1:c.4485G>A	ENSP00000509074.1:p.Glu1495=
ENST00000687704.1:c.*2309G>A	ENSP00000510454.1:n.*2309G>A
ENST00000688066.1:c.4584G>A	ENSP00000510782.1:p.Glu1528=
ENST00000688124.1:c.*3502G>A	ENSP00000510645.1:n.*3502G>A
ENST00000688848.1:c.*3928G>A	ENSP00000509419.1:n.*3928G>A
ENST00000688985.1:c.1585G>A	ENSP00000510477.1:n.1585G>A
ENST00000689129.1:c.4509G>A	ENSP00000510414.1:p.Glu1503=
ENST00000689177.1:n.5856G>A
ENST00000689849.1:c.680G>A
ENST00000689981.1:c.4584G>A	ENSP00000509035.1:p.Glu1528=
ENST00000690369.1:n.4602G>A
ENST00000690590.1:n.1631G>A
ENST00000690990.1:c.4578G>A	ENSP00000510461.1:p.Glu1526=
ENST00000691233.1:c.4503G>A	ENSP00000509215.1:p.Glu1501=
ENST00000691306.1:c.682G>A
ENST00000691345.1:n.2302+1103G>A
ENST00000691792.1:c.4572G>A	ENSP00000509911.1:p.Glu1524=
ENST00000691959.1:n.5303G>A
ENST00000692844.1:n.1668G>A
ENST00000692946.1:c.680G>A
ENST00000693052.1:c.4602G>A	ENSP00000509558.1:p.Glu1534=
ENST00000693289.1:n.1743G>A
ENST00000693440.1:c.4581G>A	ENSP00000509462.1:p.Glu1527=
ENST00000693499.1:n.5509G>A
ENST00000693591.1:n.3321G>A
ENST00000380817.8:c.4584G>A MANE Select	ENSP00000370196.2:p.Glu1528=
ENST00000348911.10:c.4509G>A	ENSP00000252027.7:p.Glu1503=
ENST00000380817.7:c.4584G>A	ENSP00000370196.2:p.Glu1528=
ENST00000418590.3:c.184G>A
ENST00000470434.1:n.725G>A
NM_002972.3:c.4584G>A	NP_002963.2:p.Glu1528=
XM_005261931.1:c.4587G>A	XP_005261988.1:p.Glu1529=
XM_005261935.1:c.4506G>A	XP_005261992.1:p.Glu1502=
XM_011530707.1:c.4686G>A	XP_011529009.1:p.Glu1562=
XM_011530708.1:c.4638G>A	XP_011529010.1:p.Glu1546=
XM_011530709.1:c.4614G>A	XP_011529011.1:p.Glu1538=
XM_011530710.1:c.4611G>A	XP_011529012.1:p.Glu1537=
XM_011530711.1:c.4611G>A	XP_011529013.1:p.Glu1537=
XR_938344.1:n.4704G>A
NM_001365819.1:c.4509G>A	NP_001352748.1:p.Glu1503=
XM_005261935.2:c.4506G>A	XP_005261992.1:p.Glu1502=
XM_011530709.2:c.4614G>A	XP_011529011.1:p.Glu1538=
XM_011530710.2:c.4611G>A	XP_011529012.1:p.Glu1537=
XM_017028905.2:c.4536G>A	XP_016884394.1:p.Glu1512=
NM_002972.4:c.4584G>A MANE Select	NP_002963.2:p.Glu1528=