Canonical Allele Identifier: CA515382719

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893160G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454731G>T , CM000684.2:g.50454731G>T	GRCh38
NC_000022.10:g.50893160G>T , CM000684.1:g.50893160G>T	GRCh37
NC_000022.9:g.49240026G>T	NCBI36
NG_041810.1:g.25341C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4746C>A	ENSP00000252027.8:p.Pro1582=
ENST00000418590.4:c.445-25C>A	ENSP00000401538.2:n.445-25C>A
ENST00000470434.2:n.1227C>A
ENST00000684986.1:c.4827C>A	ENSP00000509117.1:p.Pro1609=
ENST00000685180.1:n.2488+5803C>A
ENST00000685390.1:n.2781-6C>A
ENST00000685411.1:n.574C>A
ENST00000685592.1:c.1058C>A
ENST00000685809.1:c.4737C>A	ENSP00000508863.1:p.Pro1579=
ENST00000686191.1:n.4024C>A
ENST00000686222.1:c.*4246C>A	ENSP00000508737.1:n.*4246C>A
ENST00000686321.1:c.920C>A
ENST00000686427.1:c.*1759C>A	ENSP00000510379.1:n.*1759C>A
ENST00000686758.1:n.2638C>A
ENST00000686801.1:c.4812C>A	ENSP00000509915.1:p.Pro1604=
ENST00000686826.1:n.1143C>A
ENST00000687016.1:c.4725C>A	ENSP00000509074.1:p.Pro1575=
ENST00000687704.1:c.*2620C>A	ENSP00000510454.1:n.*2620C>A
ENST00000688066.1:c.4824C>A	ENSP00000510782.1:p.Pro1608=
ENST00000688124.1:c.*3731-6C>A	ENSP00000510645.1:n.*3731-6C>A
ENST00000688848.1:c.*4168C>A	ENSP00000509419.1:n.*4168C>A
ENST00000688985.1:c.1825C>A	ENSP00000510477.1:n.1825C>A
ENST00000689129.1:c.4749C>A	ENSP00000510414.1:p.Pro1583=
ENST00000689177.1:n.6096C>A
ENST00000689849.1:c.920C>A
ENST00000689981.1:c.4824C>A	ENSP00000509035.1:p.Pro1608=
ENST00000690369.1:n.4842C>A
ENST00000690590.1:n.1871C>A
ENST00000690990.1:c.4818C>A	ENSP00000510461.1:p.Pro1606=
ENST00000691233.1:c.4743C>A	ENSP00000509215.1:p.Pro1581=
ENST00000691306.1:c.905C>A
ENST00000691345.1:n.2302+1485C>A
ENST00000691792.1:c.4812C>A	ENSP00000509911.1:p.Pro1604=
ENST00000691959.1:n.5543C>A
ENST00000692844.1:n.1908C>A
ENST00000692946.1:c.920C>A
ENST00000693052.1:c.4842C>A	ENSP00000509558.1:p.Pro1614=
ENST00000693289.1:n.1983C>A
ENST00000693440.1:c.4821C>A	ENSP00000509462.1:p.Pro1607=
ENST00000693499.1:n.5820C>A
ENST00000693591.1:n.3632C>A
ENST00000380817.8:c.4824C>A MANE Select	ENSP00000370196.2:p.Pro1608=
ENST00000348911.10:c.4749C>A	ENSP00000252027.7:p.Pro1583=
ENST00000380817.7:c.4824C>A	ENSP00000370196.2:p.Pro1608=
ENST00000418590.3:c.413-25C>A
ENST00000470434.1:n.965C>A
NM_002972.3:c.4824C>A	NP_002963.2:p.Pro1608=
XM_005261931.1:c.4827C>A	XP_005261988.1:p.Pro1609=
XM_005261935.1:c.4746C>A	XP_005261992.1:p.Pro1582=
XM_011530707.1:c.4926C>A	XP_011529009.1:p.Pro1642=
XM_011530708.1:c.4878C>A	XP_011529010.1:p.Pro1626=
XM_011530709.1:c.4854C>A	XP_011529011.1:p.Pro1618=
XM_011530710.1:c.4851C>A	XP_011529012.1:p.Pro1617=
XM_011530711.1:c.4851C>A	XP_011529013.1:p.Pro1617=
XR_938344.1:n.4944C>A
NM_001365819.1:c.4749C>A	NP_001352748.1:p.Pro1583=
XM_005261935.2:c.4746C>A	XP_005261992.1:p.Pro1582=
XM_011530709.2:c.4854C>A	XP_011529011.1:p.Pro1618=
XM_011530710.2:c.4851C>A	XP_011529012.1:p.Pro1617=
XM_017028905.2:c.4776C>A	XP_016884394.1:p.Pro1592=
NM_002972.4:c.4824C>A MANE Select	NP_002963.2:p.Pro1608=