Canonical Allele Identifier: CA412192849

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893244T>A (hg19) ; chr22:g.50454815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454815T>A , CM000684.2:g.50454815T>A	GRCh38
NC_000022.10:g.50893244T>A , CM000684.1:g.50893244T>A	GRCh37
NC_000022.9:g.49240110T>A	NCBI36
NG_041810.1:g.25257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4733A>T	ENSP00000252027.8:p.Glu1578Val
ENST00000418590.4:c.443A>T	ENSP00000401538.2:p.Glu148Val
ENST00000470434.2:n.1214A>T
ENST00000684986.1:c.4814A>T	ENSP00000509117.1:p.Glu1605Val
ENST00000685180.1:n.2488+5719A>T
ENST00000685390.1:n.2779A>T
ENST00000685411.1:n.561A>T
ENST00000685592.1:c.1045A>T
ENST00000685809.1:c.4724A>T	ENSP00000508863.1:p.Glu1575Val
ENST00000686029.1:c.889A>T
ENST00000686191.1:n.4011A>T
ENST00000686222.1:c.*4233A>T	ENSP00000508737.1:n.*4233A>T
ENST00000686321.1:c.907A>T
ENST00000686427.1:c.*1746A>T	ENSP00000510379.1:n.*1746A>T
ENST00000686758.1:n.2625A>T
ENST00000686801.1:c.4799A>T	ENSP00000509915.1:p.Glu1600Val
ENST00000686826.1:n.1130A>T
ENST00000687016.1:c.4712A>T	ENSP00000509074.1:p.Glu1571Val
ENST00000687704.1:c.*2536A>T	ENSP00000510454.1:n.*2536A>T
ENST00000688066.1:c.4811A>T	ENSP00000510782.1:p.Glu1604Val
ENST00000688124.1:c.*3729A>T	ENSP00000510645.1:n.*3729A>T
ENST00000688848.1:c.*4155A>T	ENSP00000509419.1:n.*4155A>T
ENST00000688985.1:c.1812A>T	ENSP00000510477.1:n.1812A>T
ENST00000689129.1:c.4736A>T	ENSP00000510414.1:p.Glu1579Val
ENST00000689177.1:n.6083A>T
ENST00000689849.1:c.907A>T
ENST00000689981.1:c.4811A>T	ENSP00000509035.1:p.Glu1604Val
ENST00000690369.1:n.4829A>T
ENST00000690590.1:n.1858A>T
ENST00000690990.1:c.4805A>T	ENSP00000510461.1:p.Glu1602Val
ENST00000691233.1:c.4730A>T	ENSP00000509215.1:p.Glu1577Val
ENST00000691306.1:c.892A>T
ENST00000691345.1:n.2302+1401A>T
ENST00000691792.1:c.4799A>T	ENSP00000509911.1:p.Glu1600Val
ENST00000691959.1:n.5530A>T
ENST00000692844.1:n.1895A>T
ENST00000692946.1:c.907A>T
ENST00000693052.1:c.4829A>T	ENSP00000509558.1:p.Glu1610Val
ENST00000693289.1:n.1970A>T
ENST00000693440.1:c.4808A>T	ENSP00000509462.1:p.Glu1603Val
ENST00000693499.1:n.5807A>T
ENST00000693591.1:n.3619A>T
ENST00000380817.8:c.4811A>T MANE Select	ENSP00000370196.2:p.Glu1604Val
ENST00000348911.10:c.4736A>T	ENSP00000252027.7:p.Glu1579Val
ENST00000380817.7:c.4811A>T	ENSP00000370196.2:p.Glu1604Val
ENST00000418590.3:c.411A>T
ENST00000470434.1:n.952A>T
NM_002972.3:c.4811A>T	NP_002963.2:p.Glu1604Val
XM_005261931.1:c.4814A>T	XP_005261988.1:p.Glu1605Val
XM_005261935.1:c.4733A>T	XP_005261992.1:p.Glu1578Val
XM_011530707.1:c.4913A>T	XP_011529009.1:p.Glu1638Val
XM_011530708.1:c.4865A>T	XP_011529010.1:p.Glu1622Val
XM_011530709.1:c.4841A>T	XP_011529011.1:p.Glu1614Val
XM_011530710.1:c.4838A>T	XP_011529012.1:p.Glu1613Val
XM_011530711.1:c.4838A>T	XP_011529013.1:p.Glu1613Val
XR_938344.1:n.4931A>T
NM_001365819.1:c.4736A>T	NP_001352748.1:p.Glu1579Val
XM_005261935.2:c.4733A>T	XP_005261992.1:p.Glu1578Val
XM_011530709.2:c.4841A>T	XP_011529011.1:p.Glu1614Val
XM_011530710.2:c.4838A>T	XP_011529012.1:p.Glu1613Val
XM_017028905.2:c.4763A>T	XP_016884394.1:p.Glu1588Val
NM_002972.4:c.4811A>T MANE Select	NP_002963.2:p.Glu1604Val