Canonical Allele Identifier: CA515382409

Gene: SBF1

Linked Data

• ClinVar Variation Id: 2778974
• ClinVar RCV Id: RCV003663311
• dbSNP Id: rs2067196349
• gnomAD v4: 22-50455119-C-T
• MyVariant Identifiers: chr22:g.50893548C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455119C>T , CM000684.2:g.50455119C>T	GRCh38
NC_000022.10:g.50893548C>T , CM000684.1:g.50893548C>T	GRCh37
NC_000022.9:g.49240414C>T	NCBI36
NG_041810.1:g.24953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4500G>A	ENSP00000252027.8:p.Glu1500=
ENST00000418590.4:c.210G>A	ENSP00000401538.2:p.Glu70=
ENST00000470434.2:n.981G>A
ENST00000684986.1:c.4581G>A	ENSP00000509117.1:p.Glu1527=
ENST00000685180.1:n.2488+5415G>A
ENST00000685390.1:n.2546G>A
ENST00000685411.1:n.328G>A
ENST00000685592.1:c.812G>A
ENST00000685809.1:c.4491G>A	ENSP00000508863.1:p.Glu1497=
ENST00000686029.1:c.656G>A
ENST00000686191.1:n.3778G>A
ENST00000686222.1:c.*4000G>A	ENSP00000508737.1:n.*4000G>A
ENST00000686321.1:c.674G>A
ENST00000686427.1:c.*1513G>A	ENSP00000510379.1:n.*1513G>A
ENST00000686758.1:n.2321G>A
ENST00000686801.1:c.4566G>A	ENSP00000509915.1:p.Glu1522=
ENST00000686826.1:n.897G>A
ENST00000687016.1:c.4479G>A	ENSP00000509074.1:p.Glu1493=
ENST00000687704.1:c.*2303G>A	ENSP00000510454.1:n.*2303G>A
ENST00000688066.1:c.4578G>A	ENSP00000510782.1:p.Glu1526=
ENST00000688124.1:c.*3496G>A	ENSP00000510645.1:n.*3496G>A
ENST00000688848.1:c.*3922G>A	ENSP00000509419.1:n.*3922G>A
ENST00000688985.1:c.1579G>A	ENSP00000510477.1:n.1579G>A
ENST00000689129.1:c.4503G>A	ENSP00000510414.1:p.Glu1501=
ENST00000689177.1:n.5850G>A
ENST00000689849.1:c.674G>A
ENST00000689981.1:c.4578G>A	ENSP00000509035.1:p.Glu1526=
ENST00000690369.1:n.4596G>A
ENST00000690590.1:n.1625G>A
ENST00000690990.1:c.4572G>A	ENSP00000510461.1:p.Glu1524=
ENST00000691233.1:c.4497G>A	ENSP00000509215.1:p.Glu1499=
ENST00000691306.1:c.676G>A
ENST00000691345.1:n.2302+1097G>A
ENST00000691792.1:c.4566G>A	ENSP00000509911.1:p.Glu1522=
ENST00000691959.1:n.5297G>A
ENST00000692844.1:n.1662G>A
ENST00000692946.1:c.674G>A
ENST00000693052.1:c.4596G>A	ENSP00000509558.1:p.Glu1532=
ENST00000693289.1:n.1737G>A
ENST00000693440.1:c.4575G>A	ENSP00000509462.1:p.Glu1525=
ENST00000693499.1:n.5503G>A
ENST00000693591.1:n.3315G>A
ENST00000380817.8:c.4578G>A MANE Select	ENSP00000370196.2:p.Glu1526=
ENST00000348911.10:c.4503G>A	ENSP00000252027.7:p.Glu1501=
ENST00000380817.7:c.4578G>A	ENSP00000370196.2:p.Glu1526=
ENST00000418590.3:c.178G>A
ENST00000470434.1:n.719G>A
NM_002972.3:c.4578G>A	NP_002963.2:p.Glu1526=
XM_005261931.1:c.4581G>A	XP_005261988.1:p.Glu1527=
XM_005261935.1:c.4500G>A	XP_005261992.1:p.Glu1500=
XM_011530707.1:c.4680G>A	XP_011529009.1:p.Glu1560=
XM_011530708.1:c.4632G>A	XP_011529010.1:p.Glu1544=
XM_011530709.1:c.4608G>A	XP_011529011.1:p.Glu1536=
XM_011530710.1:c.4605G>A	XP_011529012.1:p.Glu1535=
XM_011530711.1:c.4605G>A	XP_011529013.1:p.Glu1535=
XR_938344.1:n.4698G>A
NM_001365819.1:c.4503G>A	NP_001352748.1:p.Glu1501=
XM_005261935.2:c.4500G>A	XP_005261992.1:p.Glu1500=
XM_011530709.2:c.4608G>A	XP_011529011.1:p.Glu1536=
XM_011530710.2:c.4605G>A	XP_011529012.1:p.Glu1535=
XM_017028905.2:c.4530G>A	XP_016884394.1:p.Glu1510=
NM_002972.4:c.4578G>A MANE Select	NP_002963.2:p.Glu1526=