Canonical Allele Identifier: CA412194258

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893483G>T (hg19) ; chr22:g.50455054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455054G>T , CM000684.2:g.50455054G>T	GRCh38
NC_000022.10:g.50893483G>T , CM000684.1:g.50893483G>T	GRCh37
NC_000022.9:g.49240349G>T	NCBI36
NG_041810.1:g.25018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4565C>A	ENSP00000252027.8:p.Thr1522Asn
ENST00000418590.4:c.275C>A	ENSP00000401538.2:p.Thr92Asn
ENST00000470434.2:n.1046C>A
ENST00000684986.1:c.4646C>A	ENSP00000509117.1:p.Thr1549Asn
ENST00000685180.1:n.2488+5480C>A
ENST00000685390.1:n.2611C>A
ENST00000685411.1:n.393C>A
ENST00000685592.1:c.877C>A
ENST00000685809.1:c.4556C>A	ENSP00000508863.1:p.Thr1519Asn
ENST00000686029.1:c.721C>A
ENST00000686191.1:n.3843C>A
ENST00000686222.1:c.*4065C>A	ENSP00000508737.1:n.*4065C>A
ENST00000686321.1:c.739C>A
ENST00000686427.1:c.*1578C>A	ENSP00000510379.1:n.*1578C>A
ENST00000686758.1:n.2386C>A
ENST00000686801.1:c.4631C>A	ENSP00000509915.1:p.Thr1544Asn
ENST00000686826.1:n.962C>A
ENST00000687016.1:c.4544C>A	ENSP00000509074.1:p.Thr1515Asn
ENST00000687704.1:c.*2368C>A	ENSP00000510454.1:n.*2368C>A
ENST00000688066.1:c.4643C>A	ENSP00000510782.1:p.Thr1548Asn
ENST00000688124.1:c.*3561C>A	ENSP00000510645.1:n.*3561C>A
ENST00000688848.1:c.*3987C>A	ENSP00000509419.1:n.*3987C>A
ENST00000688985.1:c.1644C>A	ENSP00000510477.1:n.1644C>A
ENST00000689129.1:c.4568C>A	ENSP00000510414.1:p.Thr1523Asn
ENST00000689177.1:n.5915C>A
ENST00000689849.1:c.739C>A
ENST00000689981.1:c.4643C>A	ENSP00000509035.1:p.Thr1548Asn
ENST00000690369.1:n.4661C>A
ENST00000690590.1:n.1690C>A
ENST00000690990.1:c.4637C>A	ENSP00000510461.1:p.Thr1546Asn
ENST00000691233.1:c.4562C>A	ENSP00000509215.1:p.Thr1521Asn
ENST00000691306.1:c.741C>A
ENST00000691345.1:n.2302+1162C>A
ENST00000691792.1:c.4631C>A	ENSP00000509911.1:p.Thr1544Asn
ENST00000691959.1:n.5362C>A
ENST00000692844.1:n.1727C>A
ENST00000692946.1:c.739C>A
ENST00000693052.1:c.4661C>A	ENSP00000509558.1:p.Thr1554Asn
ENST00000693289.1:n.1802C>A
ENST00000693440.1:c.4640C>A	ENSP00000509462.1:p.Thr1547Asn
ENST00000693499.1:n.5568C>A
ENST00000693591.1:n.3380C>A
ENST00000380817.8:c.4643C>A MANE Select	ENSP00000370196.2:p.Thr1548Asn
ENST00000348911.10:c.4568C>A	ENSP00000252027.7:p.Thr1523Asn
ENST00000380817.7:c.4643C>A	ENSP00000370196.2:p.Thr1548Asn
ENST00000418590.3:c.243C>A
ENST00000470434.1:n.784C>A
NM_002972.3:c.4643C>A	NP_002963.2:p.Thr1548Asn
XM_005261931.1:c.4646C>A	XP_005261988.1:p.Thr1549Asn
XM_005261935.1:c.4565C>A	XP_005261992.1:p.Thr1522Asn
XM_011530707.1:c.4745C>A	XP_011529009.1:p.Thr1582Asn
XM_011530708.1:c.4697C>A	XP_011529010.1:p.Thr1566Asn
XM_011530709.1:c.4673C>A	XP_011529011.1:p.Thr1558Asn
XM_011530710.1:c.4670C>A	XP_011529012.1:p.Thr1557Asn
XM_011530711.1:c.4670C>A	XP_011529013.1:p.Thr1557Asn
XR_938344.1:n.4763C>A
NM_001365819.1:c.4568C>A	NP_001352748.1:p.Thr1523Asn
XM_005261935.2:c.4565C>A	XP_005261992.1:p.Thr1522Asn
XM_011530709.2:c.4673C>A	XP_011529011.1:p.Thr1558Asn
XM_011530710.2:c.4670C>A	XP_011529012.1:p.Thr1557Asn
XM_017028905.2:c.4595C>A	XP_016884394.1:p.Thr1532Asn
NM_002972.4:c.4643C>A MANE Select	NP_002963.2:p.Thr1548Asn