Canonical Allele Identifier: CA412195433

Gene: SBF1

Linked Data

• gnomAD v3: 22-50455138-T-A
• gnomAD v4: 22-50455138-T-A
• MyVariant Identifiers: chr22:g.50893567T>A (hg19) ; chr22:g.50455138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455138T>A , CM000684.2:g.50455138T>A	GRCh38
NC_000022.10:g.50893567T>A , CM000684.1:g.50893567T>A	GRCh37
NC_000022.9:g.49240433T>A	NCBI36
NG_041810.1:g.24934A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4481A>T	ENSP00000252027.8:p.His1494Leu
ENST00000418590.4:c.191A>T	ENSP00000401538.2:p.His64Leu
ENST00000470434.2:n.962A>T
ENST00000684986.1:c.4562A>T	ENSP00000509117.1:p.His1521Leu
ENST00000685180.1:n.2488+5396A>T
ENST00000685390.1:n.2527A>T
ENST00000685411.1:n.309A>T
ENST00000685592.1:c.793A>T
ENST00000685809.1:c.4472A>T	ENSP00000508863.1:p.His1491Leu
ENST00000686029.1:c.637A>T
ENST00000686191.1:n.3759A>T
ENST00000686222.1:c.*3981A>T	ENSP00000508737.1:n.*3981A>T
ENST00000686321.1:c.655A>T
ENST00000686427.1:c.*1494A>T	ENSP00000510379.1:n.*1494A>T
ENST00000686758.1:n.2302A>T
ENST00000686801.1:c.4547A>T	ENSP00000509915.1:p.His1516Leu
ENST00000686826.1:n.878A>T
ENST00000687016.1:c.4460A>T	ENSP00000509074.1:p.His1487Leu
ENST00000687704.1:c.*2284A>T	ENSP00000510454.1:n.*2284A>T
ENST00000688066.1:c.4559A>T	ENSP00000510782.1:p.His1520Leu
ENST00000688124.1:c.*3477A>T	ENSP00000510645.1:n.*3477A>T
ENST00000688848.1:c.*3903A>T	ENSP00000509419.1:n.*3903A>T
ENST00000688985.1:c.1560A>T	ENSP00000510477.1:n.1560A>T
ENST00000689129.1:c.4484A>T	ENSP00000510414.1:p.His1495Leu
ENST00000689177.1:n.5831A>T
ENST00000689849.1:c.655A>T
ENST00000689981.1:c.4559A>T	ENSP00000509035.1:p.His1520Leu
ENST00000690369.1:n.4577A>T
ENST00000690590.1:n.1606A>T
ENST00000690990.1:c.4553A>T	ENSP00000510461.1:p.His1518Leu
ENST00000691233.1:c.4478A>T	ENSP00000509215.1:p.His1493Leu
ENST00000691306.1:c.657A>T
ENST00000691345.1:n.2302+1078A>T
ENST00000691792.1:c.4555-8A>T	ENSP00000509911.1:n.4555-8A>T
ENST00000691959.1:n.5278A>T
ENST00000692844.1:n.1643A>T
ENST00000692946.1:c.655A>T
ENST00000693052.1:c.4577A>T	ENSP00000509558.1:p.His1526Leu
ENST00000693289.1:n.1718A>T
ENST00000693440.1:c.4556A>T	ENSP00000509462.1:p.His1519Leu
ENST00000693499.1:n.5484A>T
ENST00000693591.1:n.3296A>T
ENST00000380817.8:c.4559A>T MANE Select	ENSP00000370196.2:p.His1520Leu
ENST00000348911.10:c.4484A>T	ENSP00000252027.7:p.His1495Leu
ENST00000380817.7:c.4559A>T	ENSP00000370196.2:p.His1520Leu
ENST00000418590.3:c.159A>T
ENST00000470434.1:n.700A>T
NM_002972.3:c.4559A>T	NP_002963.2:p.His1520Leu
XM_005261931.1:c.4562A>T	XP_005261988.1:p.His1521Leu
XM_005261935.1:c.4481A>T	XP_005261992.1:p.His1494Leu
XM_011530707.1:c.4661A>T	XP_011529009.1:p.His1554Leu
XM_011530708.1:c.4613A>T	XP_011529010.1:p.His1538Leu
XM_011530709.1:c.4589A>T	XP_011529011.1:p.His1530Leu
XM_011530710.1:c.4586A>T	XP_011529012.1:p.His1529Leu
XM_011530711.1:c.4586A>T	XP_011529013.1:p.His1529Leu
XR_938344.1:n.4679A>T
NM_001365819.1:c.4484A>T	NP_001352748.1:p.His1495Leu
XM_005261935.2:c.4481A>T	XP_005261992.1:p.His1494Leu
XM_011530709.2:c.4589A>T	XP_011529011.1:p.His1530Leu
XM_011530710.2:c.4586A>T	XP_011529012.1:p.His1529Leu
XM_017028905.2:c.4511A>T	XP_016884394.1:p.His1504Leu
NM_002972.4:c.4559A>T MANE Select	NP_002963.2:p.His1520Leu