Canonical Allele Identifier: CA412193580

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893349T>C (hg19) ; chr22:g.50454920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454920T>C , CM000684.2:g.50454920T>C	GRCh38
NC_000022.10:g.50893349T>C , CM000684.1:g.50893349T>C	GRCh37
NC_000022.9:g.49240215T>C	NCBI36
NG_041810.1:g.25152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4628A>G	ENSP00000252027.8:p.Glu1543Gly
ENST00000418590.4:c.338A>G	ENSP00000401538.2:p.Glu113Gly
ENST00000470434.2:n.1109A>G
ENST00000684986.1:c.4709A>G	ENSP00000509117.1:p.Glu1570Gly
ENST00000685180.1:n.2488+5614A>G
ENST00000685390.1:n.2674A>G
ENST00000685411.1:n.456A>G
ENST00000685592.1:c.940A>G
ENST00000685809.1:c.4619A>G	ENSP00000508863.1:p.Glu1540Gly
ENST00000686029.1:c.784A>G
ENST00000686191.1:n.3906A>G
ENST00000686222.1:c.*4128A>G	ENSP00000508737.1:n.*4128A>G
ENST00000686321.1:c.802A>G
ENST00000686427.1:c.*1641A>G	ENSP00000510379.1:n.*1641A>G
ENST00000686758.1:n.2520A>G
ENST00000686801.1:c.4694A>G	ENSP00000509915.1:p.Glu1565Gly
ENST00000686826.1:n.1025A>G
ENST00000687016.1:c.4607A>G	ENSP00000509074.1:p.Glu1536Gly
ENST00000687704.1:c.*2431A>G	ENSP00000510454.1:n.*2431A>G
ENST00000688066.1:c.4706A>G	ENSP00000510782.1:p.Glu1569Gly
ENST00000688124.1:c.*3624A>G	ENSP00000510645.1:n.*3624A>G
ENST00000688848.1:c.*4050A>G	ENSP00000509419.1:n.*4050A>G
ENST00000688985.1:c.1707A>G	ENSP00000510477.1:n.1707A>G
ENST00000689129.1:c.4631A>G	ENSP00000510414.1:p.Glu1544Gly
ENST00000689177.1:n.5978A>G
ENST00000689849.1:c.802A>G
ENST00000689981.1:c.4706A>G	ENSP00000509035.1:p.Glu1569Gly
ENST00000690369.1:n.4724A>G
ENST00000690590.1:n.1753A>G
ENST00000690990.1:c.4700A>G	ENSP00000510461.1:p.Glu1567Gly
ENST00000691233.1:c.4625A>G	ENSP00000509215.1:p.Glu1542Gly
ENST00000691306.1:c.787A>G
ENST00000691345.1:n.2302+1296A>G
ENST00000691792.1:c.4694A>G	ENSP00000509911.1:p.Glu1565Gly
ENST00000691959.1:n.5425A>G
ENST00000692844.1:n.1790A>G
ENST00000692946.1:c.802A>G
ENST00000693052.1:c.4724A>G	ENSP00000509558.1:p.Glu1575Gly
ENST00000693289.1:n.1865A>G
ENST00000693440.1:c.4703A>G	ENSP00000509462.1:p.Glu1568Gly
ENST00000693499.1:n.5702A>G
ENST00000693591.1:n.3514A>G
ENST00000380817.8:c.4706A>G MANE Select	ENSP00000370196.2:p.Glu1569Gly
ENST00000348911.10:c.4631A>G	ENSP00000252027.7:p.Glu1544Gly
ENST00000380817.7:c.4706A>G	ENSP00000370196.2:p.Glu1569Gly
ENST00000418590.3:c.306A>G
ENST00000470434.1:n.847A>G
NM_002972.3:c.4706A>G	NP_002963.2:p.Glu1569Gly
XM_005261931.1:c.4709A>G	XP_005261988.1:p.Glu1570Gly
XM_005261935.1:c.4628A>G	XP_005261992.1:p.Glu1543Gly
XM_011530707.1:c.4808A>G	XP_011529009.1:p.Glu1603Gly
XM_011530708.1:c.4760A>G	XP_011529010.1:p.Glu1587Gly
XM_011530709.1:c.4736A>G	XP_011529011.1:p.Glu1579Gly
XM_011530710.1:c.4733A>G	XP_011529012.1:p.Glu1578Gly
XM_011530711.1:c.4733A>G	XP_011529013.1:p.Glu1578Gly
XR_938344.1:n.4826A>G
NM_001365819.1:c.4631A>G	NP_001352748.1:p.Glu1544Gly
XM_005261935.2:c.4628A>G	XP_005261992.1:p.Glu1543Gly
XM_011530709.2:c.4736A>G	XP_011529011.1:p.Glu1579Gly
XM_011530710.2:c.4733A>G	XP_011529012.1:p.Glu1578Gly
XM_017028905.2:c.4658A>G	XP_016884394.1:p.Glu1553Gly
NM_002972.4:c.4706A>G MANE Select	NP_002963.2:p.Glu1569Gly