Canonical Allele Identifier: CA515382783

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893467A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455038A>T , CM000684.2:g.50455038A>T	GRCh38
NC_000022.10:g.50893467A>T , CM000684.1:g.50893467A>T	GRCh37
NC_000022.9:g.49240333A>T	NCBI36
NG_041810.1:g.25034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4581T>A	ENSP00000252027.8:p.Ser1527=
ENST00000418590.4:c.291T>A	ENSP00000401538.2:p.Ser97=
ENST00000470434.2:n.1062T>A
ENST00000684986.1:c.4662T>A	ENSP00000509117.1:p.Ser1554=
ENST00000685180.1:n.2488+5496T>A
ENST00000685390.1:n.2627T>A
ENST00000685411.1:n.409T>A
ENST00000685592.1:c.893T>A
ENST00000685809.1:c.4572T>A	ENSP00000508863.1:p.Ser1524=
ENST00000686029.1:c.737T>A
ENST00000686191.1:n.3859T>A
ENST00000686222.1:c.*4081T>A	ENSP00000508737.1:n.*4081T>A
ENST00000686321.1:c.755T>A
ENST00000686427.1:c.*1594T>A	ENSP00000510379.1:n.*1594T>A
ENST00000686758.1:n.2402T>A
ENST00000686801.1:c.4647T>A	ENSP00000509915.1:p.Ser1549=
ENST00000686826.1:n.978T>A
ENST00000687016.1:c.4560T>A	ENSP00000509074.1:p.Ser1520=
ENST00000687704.1:c.*2384T>A	ENSP00000510454.1:n.*2384T>A
ENST00000688066.1:c.4659T>A	ENSP00000510782.1:p.Ser1553=
ENST00000688124.1:c.*3577T>A	ENSP00000510645.1:n.*3577T>A
ENST00000688848.1:c.*4003T>A	ENSP00000509419.1:n.*4003T>A
ENST00000688985.1:c.1660T>A	ENSP00000510477.1:n.1660T>A
ENST00000689129.1:c.4584T>A	ENSP00000510414.1:p.Ser1528=
ENST00000689177.1:n.5931T>A
ENST00000689849.1:c.755T>A
ENST00000689981.1:c.4659T>A	ENSP00000509035.1:p.Ser1553=
ENST00000690369.1:n.4677T>A
ENST00000690590.1:n.1706T>A
ENST00000690990.1:c.4653T>A	ENSP00000510461.1:p.Ser1551=
ENST00000691233.1:c.4578T>A	ENSP00000509215.1:p.Ser1526=
ENST00000691306.1:c.757T>A
ENST00000691345.1:n.2302+1178T>A
ENST00000691792.1:c.4647T>A	ENSP00000509911.1:p.Ser1549=
ENST00000691959.1:n.5378T>A
ENST00000692844.1:n.1743T>A
ENST00000692946.1:c.755T>A
ENST00000693052.1:c.4677T>A	ENSP00000509558.1:p.Ser1559=
ENST00000693289.1:n.1818T>A
ENST00000693440.1:c.4656T>A	ENSP00000509462.1:p.Ser1552=
ENST00000693499.1:n.5584T>A
ENST00000693591.1:n.3396T>A
ENST00000380817.8:c.4659T>A MANE Select	ENSP00000370196.2:p.Ser1553=
ENST00000348911.10:c.4584T>A	ENSP00000252027.7:p.Ser1528=
ENST00000380817.7:c.4659T>A	ENSP00000370196.2:p.Ser1553=
ENST00000418590.3:c.259T>A
ENST00000470434.1:n.800T>A
NM_002972.3:c.4659T>A	NP_002963.2:p.Ser1553=
XM_005261931.1:c.4662T>A	XP_005261988.1:p.Ser1554=
XM_005261935.1:c.4581T>A	XP_005261992.1:p.Ser1527=
XM_011530707.1:c.4761T>A	XP_011529009.1:p.Ser1587=
XM_011530708.1:c.4713T>A	XP_011529010.1:p.Ser1571=
XM_011530709.1:c.4689T>A	XP_011529011.1:p.Ser1563=
XM_011530710.1:c.4686T>A	XP_011529012.1:p.Ser1562=
XM_011530711.1:c.4686T>A	XP_011529013.1:p.Ser1562=
XR_938344.1:n.4779T>A
NM_001365819.1:c.4584T>A	NP_001352748.1:p.Ser1528=
XM_005261935.2:c.4581T>A	XP_005261992.1:p.Ser1527=
XM_011530709.2:c.4689T>A	XP_011529011.1:p.Ser1563=
XM_011530710.2:c.4686T>A	XP_011529012.1:p.Ser1562=
XM_017028905.2:c.4611T>A	XP_016884394.1:p.Ser1537=
NM_002972.4:c.4659T>A MANE Select	NP_002963.2:p.Ser1553=