Canonical Allele Identifier: CA515382815

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893482G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455053G>T , CM000684.2:g.50455053G>T	GRCh38
NC_000022.10:g.50893482G>T , CM000684.1:g.50893482G>T	GRCh37
NC_000022.9:g.49240348G>T	NCBI36
NG_041810.1:g.25019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4566C>A	ENSP00000252027.8:p.Thr1522=
ENST00000418590.4:c.276C>A	ENSP00000401538.2:p.Thr92=
ENST00000470434.2:n.1047C>A
ENST00000684986.1:c.4647C>A	ENSP00000509117.1:p.Thr1549=
ENST00000685180.1:n.2488+5481C>A
ENST00000685390.1:n.2612C>A
ENST00000685411.1:n.394C>A
ENST00000685592.1:c.878C>A
ENST00000685809.1:c.4557C>A	ENSP00000508863.1:p.Thr1519=
ENST00000686029.1:c.722C>A
ENST00000686191.1:n.3844C>A
ENST00000686222.1:c.*4066C>A	ENSP00000508737.1:n.*4066C>A
ENST00000686321.1:c.740C>A
ENST00000686427.1:c.*1579C>A	ENSP00000510379.1:n.*1579C>A
ENST00000686758.1:n.2387C>A
ENST00000686801.1:c.4632C>A	ENSP00000509915.1:p.Thr1544=
ENST00000686826.1:n.963C>A
ENST00000687016.1:c.4545C>A	ENSP00000509074.1:p.Thr1515=
ENST00000687704.1:c.*2369C>A	ENSP00000510454.1:n.*2369C>A
ENST00000688066.1:c.4644C>A	ENSP00000510782.1:p.Thr1548=
ENST00000688124.1:c.*3562C>A	ENSP00000510645.1:n.*3562C>A
ENST00000688848.1:c.*3988C>A	ENSP00000509419.1:n.*3988C>A
ENST00000688985.1:c.1645C>A	ENSP00000510477.1:n.1645C>A
ENST00000689129.1:c.4569C>A	ENSP00000510414.1:p.Thr1523=
ENST00000689177.1:n.5916C>A
ENST00000689849.1:c.740C>A
ENST00000689981.1:c.4644C>A	ENSP00000509035.1:p.Thr1548=
ENST00000690369.1:n.4662C>A
ENST00000690590.1:n.1691C>A
ENST00000690990.1:c.4638C>A	ENSP00000510461.1:p.Thr1546=
ENST00000691233.1:c.4563C>A	ENSP00000509215.1:p.Thr1521=
ENST00000691306.1:c.742C>A
ENST00000691345.1:n.2302+1163C>A
ENST00000691792.1:c.4632C>A	ENSP00000509911.1:p.Thr1544=
ENST00000691959.1:n.5363C>A
ENST00000692844.1:n.1728C>A
ENST00000692946.1:c.740C>A
ENST00000693052.1:c.4662C>A	ENSP00000509558.1:p.Thr1554=
ENST00000693289.1:n.1803C>A
ENST00000693440.1:c.4641C>A	ENSP00000509462.1:p.Thr1547=
ENST00000693499.1:n.5569C>A
ENST00000693591.1:n.3381C>A
ENST00000380817.8:c.4644C>A MANE Select	ENSP00000370196.2:p.Thr1548=
ENST00000348911.10:c.4569C>A	ENSP00000252027.7:p.Thr1523=
ENST00000380817.7:c.4644C>A	ENSP00000370196.2:p.Thr1548=
ENST00000418590.3:c.244C>A
ENST00000470434.1:n.785C>A
NM_002972.3:c.4644C>A	NP_002963.2:p.Thr1548=
XM_005261931.1:c.4647C>A	XP_005261988.1:p.Thr1549=
XM_005261935.1:c.4566C>A	XP_005261992.1:p.Thr1522=
XM_011530707.1:c.4746C>A	XP_011529009.1:p.Thr1582=
XM_011530708.1:c.4698C>A	XP_011529010.1:p.Thr1566=
XM_011530709.1:c.4674C>A	XP_011529011.1:p.Thr1558=
XM_011530710.1:c.4671C>A	XP_011529012.1:p.Thr1557=
XM_011530711.1:c.4671C>A	XP_011529013.1:p.Thr1557=
XR_938344.1:n.4764C>A
NM_001365819.1:c.4569C>A	NP_001352748.1:p.Thr1523=
XM_005261935.2:c.4566C>A	XP_005261992.1:p.Thr1522=
XM_011530709.2:c.4674C>A	XP_011529011.1:p.Thr1558=
XM_011530710.2:c.4671C>A	XP_011529012.1:p.Thr1557=
XM_017028905.2:c.4596C>A	XP_016884394.1:p.Thr1532=
NM_002972.4:c.4644C>A MANE Select	NP_002963.2:p.Thr1548=