Canonical Allele Identifier: CA412194113

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893468G>C (hg19) ; chr22:g.50455039G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455039G>C , CM000684.2:g.50455039G>C	GRCh38
NC_000022.10:g.50893468G>C , CM000684.1:g.50893468G>C	GRCh37
NC_000022.9:g.49240334G>C	NCBI36
NG_041810.1:g.25033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4580C>G	ENSP00000252027.8:p.Ser1527Cys
ENST00000418590.4:c.290C>G	ENSP00000401538.2:p.Ser97Cys
ENST00000470434.2:n.1061C>G
ENST00000684986.1:c.4661C>G	ENSP00000509117.1:p.Ser1554Cys
ENST00000685180.1:n.2488+5495C>G
ENST00000685390.1:n.2626C>G
ENST00000685411.1:n.408C>G
ENST00000685592.1:c.892C>G
ENST00000685809.1:c.4571C>G	ENSP00000508863.1:p.Ser1524Cys
ENST00000686029.1:c.736C>G
ENST00000686191.1:n.3858C>G
ENST00000686222.1:c.*4080C>G	ENSP00000508737.1:n.*4080C>G
ENST00000686321.1:c.754C>G
ENST00000686427.1:c.*1593C>G	ENSP00000510379.1:n.*1593C>G
ENST00000686758.1:n.2401C>G
ENST00000686801.1:c.4646C>G	ENSP00000509915.1:p.Ser1549Cys
ENST00000686826.1:n.977C>G
ENST00000687016.1:c.4559C>G	ENSP00000509074.1:p.Ser1520Cys
ENST00000687704.1:c.*2383C>G	ENSP00000510454.1:n.*2383C>G
ENST00000688066.1:c.4658C>G	ENSP00000510782.1:p.Ser1553Cys
ENST00000688124.1:c.*3576C>G	ENSP00000510645.1:n.*3576C>G
ENST00000688848.1:c.*4002C>G	ENSP00000509419.1:n.*4002C>G
ENST00000688985.1:c.1659C>G	ENSP00000510477.1:n.1659C>G
ENST00000689129.1:c.4583C>G	ENSP00000510414.1:p.Ser1528Cys
ENST00000689177.1:n.5930C>G
ENST00000689849.1:c.754C>G
ENST00000689981.1:c.4658C>G	ENSP00000509035.1:p.Ser1553Cys
ENST00000690369.1:n.4676C>G
ENST00000690590.1:n.1705C>G
ENST00000690990.1:c.4652C>G	ENSP00000510461.1:p.Ser1551Cys
ENST00000691233.1:c.4577C>G	ENSP00000509215.1:p.Ser1526Cys
ENST00000691306.1:c.756C>G
ENST00000691345.1:n.2302+1177C>G
ENST00000691792.1:c.4646C>G	ENSP00000509911.1:p.Ser1549Cys
ENST00000691959.1:n.5377C>G
ENST00000692844.1:n.1742C>G
ENST00000692946.1:c.754C>G
ENST00000693052.1:c.4676C>G	ENSP00000509558.1:p.Ser1559Cys
ENST00000693289.1:n.1817C>G
ENST00000693440.1:c.4655C>G	ENSP00000509462.1:p.Ser1552Cys
ENST00000693499.1:n.5583C>G
ENST00000693591.1:n.3395C>G
ENST00000380817.8:c.4658C>G MANE Select	ENSP00000370196.2:p.Ser1553Cys
ENST00000348911.10:c.4583C>G	ENSP00000252027.7:p.Ser1528Cys
ENST00000380817.7:c.4658C>G	ENSP00000370196.2:p.Ser1553Cys
ENST00000418590.3:c.258C>G
ENST00000470434.1:n.799C>G
NM_002972.3:c.4658C>G	NP_002963.2:p.Ser1553Cys
XM_005261931.1:c.4661C>G	XP_005261988.1:p.Ser1554Cys
XM_005261935.1:c.4580C>G	XP_005261992.1:p.Ser1527Cys
XM_011530707.1:c.4760C>G	XP_011529009.1:p.Ser1587Cys
XM_011530708.1:c.4712C>G	XP_011529010.1:p.Ser1571Cys
XM_011530709.1:c.4688C>G	XP_011529011.1:p.Ser1563Cys
XM_011530710.1:c.4685C>G	XP_011529012.1:p.Ser1562Cys
XM_011530711.1:c.4685C>G	XP_011529013.1:p.Ser1562Cys
XR_938344.1:n.4778C>G
NM_001365819.1:c.4583C>G	NP_001352748.1:p.Ser1528Cys
XM_005261935.2:c.4580C>G	XP_005261992.1:p.Ser1527Cys
XM_011530709.2:c.4688C>G	XP_011529011.1:p.Ser1563Cys
XM_011530710.2:c.4685C>G	XP_011529012.1:p.Ser1562Cys
XM_017028905.2:c.4610C>G	XP_016884394.1:p.Ser1537Cys
NM_002972.4:c.4658C>G MANE Select	NP_002963.2:p.Ser1553Cys