Canonical Allele Identifier: CA412195728

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455316G>A , CM000684.2:g.50455316G>A	GRCh38
NC_000022.10:g.50893745G>A , CM000684.1:g.50893745G>A	GRCh37
NC_000022.9:g.49240611G>A	NCBI36
NG_041810.1:g.24756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4384C>T	ENSP00000252027.8:p.His1462Tyr
ENST00000418590.4:c.94C>T	ENSP00000401538.2:p.His32Tyr
ENST00000470434.2:n.784C>T
ENST00000684986.1:c.4465C>T	ENSP00000509117.1:p.His1489Tyr
ENST00000685180.1:n.2488+5218C>T
ENST00000685390.1:n.2430C>T
ENST00000685411.1:n.131C>T
ENST00000685592.1:c.696C>T
ENST00000685809.1:c.4375C>T	ENSP00000508863.1:p.His1459Tyr
ENST00000686029.1:c.540C>T
ENST00000686191.1:n.3662C>T
ENST00000686222.1:c.*3884C>T	ENSP00000508737.1:n.*3884C>T
ENST00000686321.1:c.558C>T
ENST00000686427.1:c.*1397C>T	ENSP00000510379.1:n.*1397C>T
ENST00000686758.1:n.2124C>T
ENST00000686801.1:c.4450C>T	ENSP00000509915.1:p.His1484Tyr
ENST00000686826.1:n.781C>T
ENST00000687016.1:c.4363C>T	ENSP00000509074.1:p.His1455Tyr
ENST00000687704.1:c.*2187C>T	ENSP00000510454.1:n.*2187C>T
ENST00000688066.1:c.4462C>T	ENSP00000510782.1:p.His1488Tyr
ENST00000688124.1:c.*3380C>T	ENSP00000510645.1:n.*3380C>T
ENST00000688848.1:c.*3806C>T	ENSP00000509419.1:n.*3806C>T
ENST00000688985.1:c.1463C>T	ENSP00000510477.1:n.1463C>T
ENST00000689129.1:c.4387C>T	ENSP00000510414.1:p.His1463Tyr
ENST00000689177.1:n.5734C>T
ENST00000689849.1:c.558C>T
ENST00000689981.1:c.4462C>T	ENSP00000509035.1:p.His1488Tyr
ENST00000690369.1:n.4480C>T
ENST00000690590.1:n.1509C>T
ENST00000690990.1:c.4456C>T	ENSP00000510461.1:p.His1486Tyr
ENST00000691233.1:c.4381C>T	ENSP00000509215.1:p.His1461Tyr
ENST00000691306.1:c.560C>T
ENST00000691345.1:n.2302+900C>T
ENST00000691792.1:c.4462C>T	ENSP00000509911.1:p.His1488Tyr
ENST00000691959.1:n.5181C>T
ENST00000692844.1:n.1546C>T
ENST00000692946.1:c.558C>T
ENST00000693052.1:c.4480C>T	ENSP00000509558.1:p.His1494Tyr
ENST00000693289.1:n.1621C>T
ENST00000693440.1:c.4459C>T	ENSP00000509462.1:p.His1487Tyr
ENST00000693499.1:n.5387C>T
ENST00000693591.1:n.3199C>T
ENST00000380817.8:c.4462C>T MANE Select	ENSP00000370196.2:p.His1488Tyr
ENST00000348911.10:c.4387C>T	ENSP00000252027.7:p.His1463Tyr
ENST00000380817.7:c.4462C>T	ENSP00000370196.2:p.His1488Tyr
ENST00000418590.3:c.62C>T
ENST00000470434.1:n.603C>T
NM_002972.3:c.4462C>T	NP_002963.2:p.His1488Tyr
XM_005261931.1:c.4465C>T	XP_005261988.1:p.His1489Tyr
XM_005261935.1:c.4384C>T	XP_005261992.1:p.His1462Tyr
XM_011530707.1:c.4564C>T	XP_011529009.1:p.His1522Tyr
XM_011530708.1:c.4516C>T	XP_011529010.1:p.His1506Tyr
XM_011530709.1:c.4492C>T	XP_011529011.1:p.His1498Tyr
XM_011530710.1:c.4489C>T	XP_011529012.1:p.His1497Tyr
XM_011530711.1:c.4489C>T	XP_011529013.1:p.His1497Tyr
XR_938344.1:n.4582C>T
NM_001365819.1:c.4387C>T	NP_001352748.1:p.His1463Tyr
XM_005261935.2:c.4384C>T	XP_005261992.1:p.His1462Tyr
XM_011530709.2:c.4492C>T	XP_011529011.1:p.His1498Tyr
XM_011530710.2:c.4489C>T	XP_011529012.1:p.His1497Tyr
XM_017028905.2:c.4414C>T	XP_016884394.1:p.His1472Tyr
NM_002972.4:c.4462C>T MANE Select	NP_002963.2:p.His1488Tyr