Canonical Allele Identifier: CA412193577

Gene: SBF1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4628A>T	ENSP00000252027.8:p.Glu1543Val
ENST00000418590.4:c.338A>T	ENSP00000401538.2:p.Glu113Val
ENST00000470434.2:n.1109A>T
ENST00000684986.1:c.4709A>T	ENSP00000509117.1:p.Glu1570Val
ENST00000685180.1:n.2488+5614A>T
ENST00000685390.1:n.2674A>T
ENST00000685411.1:n.456A>T
ENST00000685592.1:c.940A>T
ENST00000685809.1:c.4619A>T	ENSP00000508863.1:p.Glu1540Val
ENST00000686029.1:c.784A>T
ENST00000686191.1:n.3906A>T
ENST00000686222.1:c.*4128A>T	ENSP00000508737.1:n.*4128A>T
ENST00000686321.1:c.802A>T
ENST00000686427.1:c.*1641A>T	ENSP00000510379.1:n.*1641A>T
ENST00000686758.1:n.2520A>T
ENST00000686801.1:c.4694A>T	ENSP00000509915.1:p.Glu1565Val
ENST00000686826.1:n.1025A>T
ENST00000687016.1:c.4607A>T	ENSP00000509074.1:p.Glu1536Val
ENST00000687704.1:c.*2431A>T	ENSP00000510454.1:n.*2431A>T
ENST00000688066.1:c.4706A>T	ENSP00000510782.1:p.Glu1569Val
ENST00000688124.1:c.*3624A>T	ENSP00000510645.1:n.*3624A>T
ENST00000688848.1:c.*4050A>T	ENSP00000509419.1:n.*4050A>T
ENST00000688985.1:c.1707A>T	ENSP00000510477.1:n.1707A>T
ENST00000689129.1:c.4631A>T	ENSP00000510414.1:p.Glu1544Val
ENST00000689177.1:n.5978A>T
ENST00000689849.1:c.802A>T
ENST00000689981.1:c.4706A>T	ENSP00000509035.1:p.Glu1569Val
ENST00000690369.1:n.4724A>T
ENST00000690590.1:n.1753A>T
ENST00000690990.1:c.4700A>T	ENSP00000510461.1:p.Glu1567Val
ENST00000691233.1:c.4625A>T	ENSP00000509215.1:p.Glu1542Val
ENST00000691306.1:c.787A>T
ENST00000691345.1:n.2302+1296A>T
ENST00000691792.1:c.4694A>T	ENSP00000509911.1:p.Glu1565Val
ENST00000691959.1:n.5425A>T
ENST00000692844.1:n.1790A>T
ENST00000692946.1:c.802A>T
ENST00000693052.1:c.4724A>T	ENSP00000509558.1:p.Glu1575Val
ENST00000693289.1:n.1865A>T
ENST00000693440.1:c.4703A>T	ENSP00000509462.1:p.Glu1568Val
ENST00000693499.1:n.5702A>T
ENST00000693591.1:n.3514A>T
ENST00000380817.8:c.4706A>T MANE Select	ENSP00000370196.2:p.Glu1569Val
ENST00000348911.10:c.4631A>T	ENSP00000252027.7:p.Glu1544Val
ENST00000380817.7:c.4706A>T	ENSP00000370196.2:p.Glu1569Val
ENST00000418590.3:c.306A>T
ENST00000470434.1:n.847A>T
NM_002972.3:c.4706A>T	NP_002963.2:p.Glu1569Val
XM_005261931.1:c.4709A>T	XP_005261988.1:p.Glu1570Val
XM_005261935.1:c.4628A>T	XP_005261992.1:p.Glu1543Val
XM_011530707.1:c.4808A>T	XP_011529009.1:p.Glu1603Val
XM_011530708.1:c.4760A>T	XP_011529010.1:p.Glu1587Val
XM_011530709.1:c.4736A>T	XP_011529011.1:p.Glu1579Val
XM_011530710.1:c.4733A>T	XP_011529012.1:p.Glu1578Val
XM_011530711.1:c.4733A>T	XP_011529013.1:p.Glu1578Val
XR_938344.1:n.4826A>T
NM_001365819.1:c.4631A>T	NP_001352748.1:p.Glu1544Val
XM_005261935.2:c.4628A>T	XP_005261992.1:p.Glu1543Val
XM_011530709.2:c.4736A>T	XP_011529011.1:p.Glu1579Val
XM_011530710.2:c.4733A>T	XP_011529012.1:p.Glu1578Val
XM_017028905.2:c.4658A>T	XP_016884394.1:p.Glu1553Val
NM_002972.4:c.4706A>T MANE Select	NP_002963.2:p.Glu1569Val