Canonical Allele Identifier: CA515382394

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893533C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455104C>T , CM000684.2:g.50455104C>T	GRCh38
NC_000022.10:g.50893533C>T , CM000684.1:g.50893533C>T	GRCh37
NC_000022.9:g.49240399C>T	NCBI36
NG_041810.1:g.24968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4515G>A	ENSP00000252027.8:p.Gln1505=
ENST00000418590.4:c.225G>A	ENSP00000401538.2:p.Gln75=
ENST00000470434.2:n.996G>A
ENST00000684986.1:c.4596G>A	ENSP00000509117.1:p.Gln1532=
ENST00000685180.1:n.2488+5430G>A
ENST00000685390.1:n.2561G>A
ENST00000685411.1:n.343G>A
ENST00000685592.1:c.827G>A
ENST00000685809.1:c.4506G>A	ENSP00000508863.1:p.Gln1502=
ENST00000686029.1:c.671G>A
ENST00000686191.1:n.3793G>A
ENST00000686222.1:c.*4015G>A	ENSP00000508737.1:n.*4015G>A
ENST00000686321.1:c.689G>A
ENST00000686427.1:c.*1528G>A	ENSP00000510379.1:n.*1528G>A
ENST00000686758.1:n.2336G>A
ENST00000686801.1:c.4581G>A	ENSP00000509915.1:p.Gln1527=
ENST00000686826.1:n.912G>A
ENST00000687016.1:c.4494G>A	ENSP00000509074.1:p.Gln1498=
ENST00000687704.1:c.*2318G>A	ENSP00000510454.1:n.*2318G>A
ENST00000688066.1:c.4593G>A	ENSP00000510782.1:p.Gln1531=
ENST00000688124.1:c.*3511G>A	ENSP00000510645.1:n.*3511G>A
ENST00000688848.1:c.*3937G>A	ENSP00000509419.1:n.*3937G>A
ENST00000688985.1:c.1594G>A	ENSP00000510477.1:n.1594G>A
ENST00000689129.1:c.4518G>A	ENSP00000510414.1:p.Gln1506=
ENST00000689177.1:n.5865G>A
ENST00000689849.1:c.689G>A
ENST00000689981.1:c.4593G>A	ENSP00000509035.1:p.Gln1531=
ENST00000690369.1:n.4611G>A
ENST00000690590.1:n.1640G>A
ENST00000690990.1:c.4587G>A	ENSP00000510461.1:p.Gln1529=
ENST00000691233.1:c.4512G>A	ENSP00000509215.1:p.Gln1504=
ENST00000691306.1:c.691G>A
ENST00000691345.1:n.2302+1112G>A
ENST00000691792.1:c.4581G>A	ENSP00000509911.1:p.Gln1527=
ENST00000691959.1:n.5312G>A
ENST00000692844.1:n.1677G>A
ENST00000692946.1:c.689G>A
ENST00000693052.1:c.4611G>A	ENSP00000509558.1:p.Gln1537=
ENST00000693289.1:n.1752G>A
ENST00000693440.1:c.4590G>A	ENSP00000509462.1:p.Gln1530=
ENST00000693499.1:n.5518G>A
ENST00000693591.1:n.3330G>A
ENST00000380817.8:c.4593G>A MANE Select	ENSP00000370196.2:p.Gln1531=
ENST00000348911.10:c.4518G>A	ENSP00000252027.7:p.Gln1506=
ENST00000380817.7:c.4593G>A	ENSP00000370196.2:p.Gln1531=
ENST00000418590.3:c.193G>A
ENST00000470434.1:n.734G>A
NM_002972.3:c.4593G>A	NP_002963.2:p.Gln1531=
XM_005261931.1:c.4596G>A	XP_005261988.1:p.Gln1532=
XM_005261935.1:c.4515G>A	XP_005261992.1:p.Gln1505=
XM_011530707.1:c.4695G>A	XP_011529009.1:p.Gln1565=
XM_011530708.1:c.4647G>A	XP_011529010.1:p.Gln1549=
XM_011530709.1:c.4623G>A	XP_011529011.1:p.Gln1541=
XM_011530710.1:c.4620G>A	XP_011529012.1:p.Gln1540=
XM_011530711.1:c.4620G>A	XP_011529013.1:p.Gln1540=
XR_938344.1:n.4713G>A
NM_001365819.1:c.4518G>A	NP_001352748.1:p.Gln1506=
XM_005261935.2:c.4515G>A	XP_005261992.1:p.Gln1505=
XM_011530709.2:c.4623G>A	XP_011529011.1:p.Gln1541=
XM_011530710.2:c.4620G>A	XP_011529012.1:p.Gln1540=
XM_017028905.2:c.4545G>A	XP_016884394.1:p.Gln1515=
NM_002972.4:c.4593G>A MANE Select	NP_002963.2:p.Gln1531=