Canonical Allele Identifier: CA412195347

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893543T>G (hg19) ; chr22:g.50455114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455114T>G , CM000684.2:g.50455114T>G	GRCh38
NC_000022.10:g.50893543T>G , CM000684.1:g.50893543T>G	GRCh37
NC_000022.9:g.49240409T>G	NCBI36
NG_041810.1:g.24958A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4505A>C	ENSP00000252027.8:p.Glu1502Ala
ENST00000418590.4:c.215A>C	ENSP00000401538.2:p.Glu72Ala
ENST00000470434.2:n.986A>C
ENST00000684986.1:c.4586A>C	ENSP00000509117.1:p.Glu1529Ala
ENST00000685180.1:n.2488+5420A>C
ENST00000685390.1:n.2551A>C
ENST00000685411.1:n.333A>C
ENST00000685592.1:c.817A>C
ENST00000685809.1:c.4496A>C	ENSP00000508863.1:p.Glu1499Ala
ENST00000686029.1:c.661A>C
ENST00000686191.1:n.3783A>C
ENST00000686222.1:c.*4005A>C	ENSP00000508737.1:n.*4005A>C
ENST00000686321.1:c.679A>C
ENST00000686427.1:c.*1518A>C	ENSP00000510379.1:n.*1518A>C
ENST00000686758.1:n.2326A>C
ENST00000686801.1:c.4571A>C	ENSP00000509915.1:p.Glu1524Ala
ENST00000686826.1:n.902A>C
ENST00000687016.1:c.4484A>C	ENSP00000509074.1:p.Glu1495Ala
ENST00000687704.1:c.*2308A>C	ENSP00000510454.1:n.*2308A>C
ENST00000688066.1:c.4583A>C	ENSP00000510782.1:p.Glu1528Ala
ENST00000688124.1:c.*3501A>C	ENSP00000510645.1:n.*3501A>C
ENST00000688848.1:c.*3927A>C	ENSP00000509419.1:n.*3927A>C
ENST00000688985.1:c.1584A>C	ENSP00000510477.1:n.1584A>C
ENST00000689129.1:c.4508A>C	ENSP00000510414.1:p.Glu1503Ala
ENST00000689177.1:n.5855A>C
ENST00000689849.1:c.679A>C
ENST00000689981.1:c.4583A>C	ENSP00000509035.1:p.Glu1528Ala
ENST00000690369.1:n.4601A>C
ENST00000690590.1:n.1630A>C
ENST00000690990.1:c.4577A>C	ENSP00000510461.1:p.Glu1526Ala
ENST00000691233.1:c.4502A>C	ENSP00000509215.1:p.Glu1501Ala
ENST00000691306.1:c.681A>C
ENST00000691345.1:n.2302+1102A>C
ENST00000691792.1:c.4571A>C	ENSP00000509911.1:p.Glu1524Ala
ENST00000691959.1:n.5302A>C
ENST00000692844.1:n.1667A>C
ENST00000692946.1:c.679A>C
ENST00000693052.1:c.4601A>C	ENSP00000509558.1:p.Glu1534Ala
ENST00000693289.1:n.1742A>C
ENST00000693440.1:c.4580A>C	ENSP00000509462.1:p.Glu1527Ala
ENST00000693499.1:n.5508A>C
ENST00000693591.1:n.3320A>C
ENST00000380817.8:c.4583A>C MANE Select	ENSP00000370196.2:p.Glu1528Ala
ENST00000348911.10:c.4508A>C	ENSP00000252027.7:p.Glu1503Ala
ENST00000380817.7:c.4583A>C	ENSP00000370196.2:p.Glu1528Ala
ENST00000418590.3:c.183A>C
ENST00000470434.1:n.724A>C
NM_002972.3:c.4583A>C	NP_002963.2:p.Glu1528Ala
XM_005261931.1:c.4586A>C	XP_005261988.1:p.Glu1529Ala
XM_005261935.1:c.4505A>C	XP_005261992.1:p.Glu1502Ala
XM_011530707.1:c.4685A>C	XP_011529009.1:p.Glu1562Ala
XM_011530708.1:c.4637A>C	XP_011529010.1:p.Glu1546Ala
XM_011530709.1:c.4613A>C	XP_011529011.1:p.Glu1538Ala
XM_011530710.1:c.4610A>C	XP_011529012.1:p.Glu1537Ala
XM_011530711.1:c.4610A>C	XP_011529013.1:p.Glu1537Ala
XR_938344.1:n.4703A>C
NM_001365819.1:c.4508A>C	NP_001352748.1:p.Glu1503Ala
XM_005261935.2:c.4505A>C	XP_005261992.1:p.Glu1502Ala
XM_011530709.2:c.4613A>C	XP_011529011.1:p.Glu1538Ala
XM_011530710.2:c.4610A>C	XP_011529012.1:p.Glu1537Ala
XM_017028905.2:c.4535A>C	XP_016884394.1:p.Glu1512Ala
NM_002972.4:c.4583A>C MANE Select	NP_002963.2:p.Glu1528Ala