Canonical Allele Identifier: CA412193868

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893445C>T (hg19) ; chr22:g.50455016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455016C>T , CM000684.2:g.50455016C>T	GRCh38
NC_000022.10:g.50893445C>T , CM000684.1:g.50893445C>T	GRCh37
NC_000022.9:g.49240311C>T	NCBI36
NG_041810.1:g.25056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4603G>A	ENSP00000252027.8:p.Gly1535Arg
ENST00000418590.4:c.313G>A	ENSP00000401538.2:p.Gly105Arg
ENST00000470434.2:n.1084G>A
ENST00000684986.1:c.4684G>A	ENSP00000509117.1:p.Gly1562Arg
ENST00000685180.1:n.2488+5518G>A
ENST00000685390.1:n.2649G>A
ENST00000685411.1:n.431G>A
ENST00000685592.1:c.915G>A
ENST00000685809.1:c.4594G>A	ENSP00000508863.1:p.Gly1532Arg
ENST00000686029.1:c.759G>A
ENST00000686191.1:n.3881G>A
ENST00000686222.1:c.*4103G>A	ENSP00000508737.1:n.*4103G>A
ENST00000686321.1:c.777G>A
ENST00000686427.1:c.*1616G>A	ENSP00000510379.1:n.*1616G>A
ENST00000686758.1:n.2424G>A
ENST00000686801.1:c.4669G>A	ENSP00000509915.1:p.Gly1557Arg
ENST00000686826.1:n.1000G>A
ENST00000687016.1:c.4582G>A	ENSP00000509074.1:p.Gly1528Arg
ENST00000687704.1:c.*2406G>A	ENSP00000510454.1:n.*2406G>A
ENST00000688066.1:c.4681G>A	ENSP00000510782.1:p.Gly1561Arg
ENST00000688124.1:c.*3599G>A	ENSP00000510645.1:n.*3599G>A
ENST00000688848.1:c.*4025G>A	ENSP00000509419.1:n.*4025G>A
ENST00000688985.1:c.1682G>A	ENSP00000510477.1:n.1682G>A
ENST00000689129.1:c.4606G>A	ENSP00000510414.1:p.Gly1536Arg
ENST00000689177.1:n.5953G>A
ENST00000689849.1:c.777G>A
ENST00000689981.1:c.4681G>A	ENSP00000509035.1:p.Gly1561Arg
ENST00000690369.1:n.4699G>A
ENST00000690590.1:n.1728G>A
ENST00000690990.1:c.4675G>A	ENSP00000510461.1:p.Gly1559Arg
ENST00000691233.1:c.4600G>A	ENSP00000509215.1:p.Gly1534Arg
ENST00000691306.1:c.779G>A
ENST00000691345.1:n.2302+1200G>A
ENST00000691792.1:c.4669G>A	ENSP00000509911.1:p.Gly1557Arg
ENST00000691959.1:n.5400G>A
ENST00000692844.1:n.1765G>A
ENST00000692946.1:c.777G>A
ENST00000693052.1:c.4699G>A	ENSP00000509558.1:p.Gly1567Arg
ENST00000693289.1:n.1840G>A
ENST00000693440.1:c.4678G>A	ENSP00000509462.1:p.Gly1560Arg
ENST00000693499.1:n.5606G>A
ENST00000693591.1:n.3418G>A
ENST00000380817.8:c.4681G>A MANE Select	ENSP00000370196.2:p.Gly1561Arg
ENST00000348911.10:c.4606G>A	ENSP00000252027.7:p.Gly1536Arg
ENST00000380817.7:c.4681G>A	ENSP00000370196.2:p.Gly1561Arg
ENST00000418590.3:c.281G>A
ENST00000470434.1:n.822G>A
NM_002972.3:c.4681G>A	NP_002963.2:p.Gly1561Arg
XM_005261931.1:c.4684G>A	XP_005261988.1:p.Gly1562Arg
XM_005261935.1:c.4603G>A	XP_005261992.1:p.Gly1535Arg
XM_011530707.1:c.4783G>A	XP_011529009.1:p.Gly1595Arg
XM_011530708.1:c.4735G>A	XP_011529010.1:p.Gly1579Arg
XM_011530709.1:c.4711G>A	XP_011529011.1:p.Gly1571Arg
XM_011530710.1:c.4708G>A	XP_011529012.1:p.Gly1570Arg
XM_011530711.1:c.4708G>A	XP_011529013.1:p.Gly1570Arg
XR_938344.1:n.4801G>A
NM_001365819.1:c.4606G>A	NP_001352748.1:p.Gly1536Arg
XM_005261935.2:c.4603G>A	XP_005261992.1:p.Gly1535Arg
XM_011530709.2:c.4711G>A	XP_011529011.1:p.Gly1571Arg
XM_011530710.2:c.4708G>A	XP_011529012.1:p.Gly1570Arg
XM_017028905.2:c.4633G>A	XP_016884394.1:p.Gly1545Arg
NM_002972.4:c.4681G>A MANE Select	NP_002963.2:p.Gly1561Arg