Canonical Allele Identifier: CA412195315

Gene: SBF1

Linked Data

• ClinVar Variation Id: 809388
• ClinVar RCV Id: RCV000997949
• dbSNP Id: rs1019524339
• MyVariant Identifiers: chr22:g.50893534T>G (hg19) ; chr22:g.50455105T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455105T>G , CM000684.2:g.50455105T>G	GRCh38
NC_000022.10:g.50893534T>G , CM000684.1:g.50893534T>G	GRCh37
NC_000022.9:g.49240400T>G	NCBI36
NG_041810.1:g.24967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4514A>C	ENSP00000252027.8:p.Gln1505Pro
ENST00000418590.4:c.224A>C	ENSP00000401538.2:p.Gln75Pro
ENST00000470434.2:n.995A>C
ENST00000684986.1:c.4595A>C	ENSP00000509117.1:p.Gln1532Pro
ENST00000685180.1:n.2488+5429A>C
ENST00000685390.1:n.2560A>C
ENST00000685411.1:n.342A>C
ENST00000685592.1:c.826A>C
ENST00000685809.1:c.4505A>C	ENSP00000508863.1:p.Gln1502Pro
ENST00000686029.1:c.670A>C
ENST00000686191.1:n.3792A>C
ENST00000686222.1:c.*4014A>C	ENSP00000508737.1:n.*4014A>C
ENST00000686321.1:c.688A>C
ENST00000686427.1:c.*1527A>C	ENSP00000510379.1:n.*1527A>C
ENST00000686758.1:n.2335A>C
ENST00000686801.1:c.4580A>C	ENSP00000509915.1:p.Gln1527Pro
ENST00000686826.1:n.911A>C
ENST00000687016.1:c.4493A>C	ENSP00000509074.1:p.Gln1498Pro
ENST00000687704.1:c.*2317A>C	ENSP00000510454.1:n.*2317A>C
ENST00000688066.1:c.4592A>C	ENSP00000510782.1:p.Gln1531Pro
ENST00000688124.1:c.*3510A>C	ENSP00000510645.1:n.*3510A>C
ENST00000688848.1:c.*3936A>C	ENSP00000509419.1:n.*3936A>C
ENST00000688985.1:c.1593A>C	ENSP00000510477.1:n.1593A>C
ENST00000689129.1:c.4517A>C	ENSP00000510414.1:p.Gln1506Pro
ENST00000689177.1:n.5864A>C
ENST00000689849.1:c.688A>C
ENST00000689981.1:c.4592A>C	ENSP00000509035.1:p.Gln1531Pro
ENST00000690369.1:n.4610A>C
ENST00000690590.1:n.1639A>C
ENST00000690990.1:c.4586A>C	ENSP00000510461.1:p.Gln1529Pro
ENST00000691233.1:c.4511A>C	ENSP00000509215.1:p.Gln1504Pro
ENST00000691306.1:c.690A>C
ENST00000691345.1:n.2302+1111A>C
ENST00000691792.1:c.4580A>C	ENSP00000509911.1:p.Gln1527Pro
ENST00000691959.1:n.5311A>C
ENST00000692844.1:n.1676A>C
ENST00000692946.1:c.688A>C
ENST00000693052.1:c.4610A>C	ENSP00000509558.1:p.Gln1537Pro
ENST00000693289.1:n.1751A>C
ENST00000693440.1:c.4589A>C	ENSP00000509462.1:p.Gln1530Pro
ENST00000693499.1:n.5517A>C
ENST00000693591.1:n.3329A>C
ENST00000380817.8:c.4592A>C MANE Select	ENSP00000370196.2:p.Gln1531Pro
ENST00000348911.10:c.4517A>C	ENSP00000252027.7:p.Gln1506Pro
ENST00000380817.7:c.4592A>C	ENSP00000370196.2:p.Gln1531Pro
ENST00000418590.3:c.192A>C
ENST00000470434.1:n.733A>C
NM_002972.3:c.4592A>C	NP_002963.2:p.Gln1531Pro
XM_005261931.1:c.4595A>C	XP_005261988.1:p.Gln1532Pro
XM_005261935.1:c.4514A>C	XP_005261992.1:p.Gln1505Pro
XM_011530707.1:c.4694A>C	XP_011529009.1:p.Gln1565Pro
XM_011530708.1:c.4646A>C	XP_011529010.1:p.Gln1549Pro
XM_011530709.1:c.4622A>C	XP_011529011.1:p.Gln1541Pro
XM_011530710.1:c.4619A>C	XP_011529012.1:p.Gln1540Pro
XM_011530711.1:c.4619A>C	XP_011529013.1:p.Gln1540Pro
XR_938344.1:n.4712A>C
NM_001365819.1:c.4517A>C	NP_001352748.1:p.Gln1506Pro
XM_005261935.2:c.4514A>C	XP_005261992.1:p.Gln1505Pro
XM_011530709.2:c.4622A>C	XP_011529011.1:p.Gln1541Pro
XM_011530710.2:c.4619A>C	XP_011529012.1:p.Gln1540Pro
XM_017028905.2:c.4544A>C	XP_016884394.1:p.Gln1515Pro
NM_002972.4:c.4592A>C MANE Select	NP_002963.2:p.Gln1531Pro