Canonical Allele Identifier: CA412194115

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893469A>C (hg19) ; chr22:g.50455040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455040A>C , CM000684.2:g.50455040A>C	GRCh38
NC_000022.10:g.50893469A>C , CM000684.1:g.50893469A>C	GRCh37
NC_000022.9:g.49240335A>C	NCBI36
NG_041810.1:g.25032T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4579T>G	ENSP00000252027.8:p.Ser1527Ala
ENST00000418590.4:c.289T>G	ENSP00000401538.2:p.Ser97Ala
ENST00000470434.2:n.1060T>G
ENST00000684986.1:c.4660T>G	ENSP00000509117.1:p.Ser1554Ala
ENST00000685180.1:n.2488+5494T>G
ENST00000685390.1:n.2625T>G
ENST00000685411.1:n.407T>G
ENST00000685592.1:c.891T>G
ENST00000685809.1:c.4570T>G	ENSP00000508863.1:p.Ser1524Ala
ENST00000686029.1:c.735T>G
ENST00000686191.1:n.3857T>G
ENST00000686222.1:c.*4079T>G	ENSP00000508737.1:n.*4079T>G
ENST00000686321.1:c.753T>G
ENST00000686427.1:c.*1592T>G	ENSP00000510379.1:n.*1592T>G
ENST00000686758.1:n.2400T>G
ENST00000686801.1:c.4645T>G	ENSP00000509915.1:p.Ser1549Ala
ENST00000686826.1:n.976T>G
ENST00000687016.1:c.4558T>G	ENSP00000509074.1:p.Ser1520Ala
ENST00000687704.1:c.*2382T>G	ENSP00000510454.1:n.*2382T>G
ENST00000688066.1:c.4657T>G	ENSP00000510782.1:p.Ser1553Ala
ENST00000688124.1:c.*3575T>G	ENSP00000510645.1:n.*3575T>G
ENST00000688848.1:c.*4001T>G	ENSP00000509419.1:n.*4001T>G
ENST00000688985.1:c.1658T>G	ENSP00000510477.1:n.1658T>G
ENST00000689129.1:c.4582T>G	ENSP00000510414.1:p.Ser1528Ala
ENST00000689177.1:n.5929T>G
ENST00000689849.1:c.753T>G
ENST00000689981.1:c.4657T>G	ENSP00000509035.1:p.Ser1553Ala
ENST00000690369.1:n.4675T>G
ENST00000690590.1:n.1704T>G
ENST00000690990.1:c.4651T>G	ENSP00000510461.1:p.Ser1551Ala
ENST00000691233.1:c.4576T>G	ENSP00000509215.1:p.Ser1526Ala
ENST00000691306.1:c.755T>G
ENST00000691345.1:n.2302+1176T>G
ENST00000691792.1:c.4645T>G	ENSP00000509911.1:p.Ser1549Ala
ENST00000691959.1:n.5376T>G
ENST00000692844.1:n.1741T>G
ENST00000692946.1:c.753T>G
ENST00000693052.1:c.4675T>G	ENSP00000509558.1:p.Ser1559Ala
ENST00000693289.1:n.1816T>G
ENST00000693440.1:c.4654T>G	ENSP00000509462.1:p.Ser1552Ala
ENST00000693499.1:n.5582T>G
ENST00000693591.1:n.3394T>G
ENST00000380817.8:c.4657T>G MANE Select	ENSP00000370196.2:p.Ser1553Ala
ENST00000348911.10:c.4582T>G	ENSP00000252027.7:p.Ser1528Ala
ENST00000380817.7:c.4657T>G	ENSP00000370196.2:p.Ser1553Ala
ENST00000418590.3:c.257T>G
ENST00000470434.1:n.798T>G
NM_002972.3:c.4657T>G	NP_002963.2:p.Ser1553Ala
XM_005261931.1:c.4660T>G	XP_005261988.1:p.Ser1554Ala
XM_005261935.1:c.4579T>G	XP_005261992.1:p.Ser1527Ala
XM_011530707.1:c.4759T>G	XP_011529009.1:p.Ser1587Ala
XM_011530708.1:c.4711T>G	XP_011529010.1:p.Ser1571Ala
XM_011530709.1:c.4687T>G	XP_011529011.1:p.Ser1563Ala
XM_011530710.1:c.4684T>G	XP_011529012.1:p.Ser1562Ala
XM_011530711.1:c.4684T>G	XP_011529013.1:p.Ser1562Ala
XR_938344.1:n.4777T>G
NM_001365819.1:c.4582T>G	NP_001352748.1:p.Ser1528Ala
XM_005261935.2:c.4579T>G	XP_005261992.1:p.Ser1527Ala
XM_011530709.2:c.4687T>G	XP_011529011.1:p.Ser1563Ala
XM_011530710.2:c.4684T>G	XP_011529012.1:p.Ser1562Ala
XM_017028905.2:c.4609T>G	XP_016884394.1:p.Ser1537Ala
NM_002972.4:c.4657T>G MANE Select	NP_002963.2:p.Ser1553Ala