Canonical Allele Identifier: CA412193028

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893274T>G (hg19) ; chr22:g.50454845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454845T>G , CM000684.2:g.50454845T>G	GRCh38
NC_000022.10:g.50893274T>G , CM000684.1:g.50893274T>G	GRCh37
NC_000022.9:g.49240140T>G	NCBI36
NG_041810.1:g.25227A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4703A>C	ENSP00000252027.8:p.His1568Pro
ENST00000418590.4:c.413A>C	ENSP00000401538.2:p.His138Pro
ENST00000470434.2:n.1184A>C
ENST00000684986.1:c.4784A>C	ENSP00000509117.1:p.His1595Pro
ENST00000685180.1:n.2488+5689A>C
ENST00000685390.1:n.2749A>C
ENST00000685411.1:n.531A>C
ENST00000685592.1:c.1015A>C
ENST00000685809.1:c.4694A>C	ENSP00000508863.1:p.His1565Pro
ENST00000686029.1:c.859A>C
ENST00000686191.1:n.3981A>C
ENST00000686222.1:c.*4203A>C	ENSP00000508737.1:n.*4203A>C
ENST00000686321.1:c.877A>C
ENST00000686427.1:c.*1716A>C	ENSP00000510379.1:n.*1716A>C
ENST00000686758.1:n.2595A>C
ENST00000686801.1:c.4769A>C	ENSP00000509915.1:p.His1590Pro
ENST00000686826.1:n.1100A>C
ENST00000687016.1:c.4682A>C	ENSP00000509074.1:p.His1561Pro
ENST00000687704.1:c.*2506A>C	ENSP00000510454.1:n.*2506A>C
ENST00000688066.1:c.4781A>C	ENSP00000510782.1:p.His1594Pro
ENST00000688124.1:c.*3699A>C	ENSP00000510645.1:n.*3699A>C
ENST00000688848.1:c.*4125A>C	ENSP00000509419.1:n.*4125A>C
ENST00000688985.1:c.1782A>C	ENSP00000510477.1:n.1782A>C
ENST00000689129.1:c.4706A>C	ENSP00000510414.1:p.His1569Pro
ENST00000689177.1:n.6053A>C
ENST00000689849.1:c.877A>C
ENST00000689981.1:c.4781A>C	ENSP00000509035.1:p.His1594Pro
ENST00000690369.1:n.4799A>C
ENST00000690590.1:n.1828A>C
ENST00000690990.1:c.4775A>C	ENSP00000510461.1:p.His1592Pro
ENST00000691233.1:c.4700A>C	ENSP00000509215.1:p.His1567Pro
ENST00000691306.1:c.862A>C
ENST00000691345.1:n.2302+1371A>C
ENST00000691792.1:c.4769A>C	ENSP00000509911.1:p.His1590Pro
ENST00000691959.1:n.5500A>C
ENST00000692844.1:n.1865A>C
ENST00000692946.1:c.877A>C
ENST00000693052.1:c.4799A>C	ENSP00000509558.1:p.His1600Pro
ENST00000693289.1:n.1940A>C
ENST00000693440.1:c.4778A>C	ENSP00000509462.1:p.His1593Pro
ENST00000693499.1:n.5777A>C
ENST00000693591.1:n.3589A>C
ENST00000380817.8:c.4781A>C MANE Select	ENSP00000370196.2:p.His1594Pro
ENST00000348911.10:c.4706A>C	ENSP00000252027.7:p.His1569Pro
ENST00000380817.7:c.4781A>C	ENSP00000370196.2:p.His1594Pro
ENST00000418590.3:c.381A>C
ENST00000470434.1:n.922A>C
NM_002972.3:c.4781A>C	NP_002963.2:p.His1594Pro
XM_005261931.1:c.4784A>C	XP_005261988.1:p.His1595Pro
XM_005261935.1:c.4703A>C	XP_005261992.1:p.His1568Pro
XM_011530707.1:c.4883A>C	XP_011529009.1:p.His1628Pro
XM_011530708.1:c.4835A>C	XP_011529010.1:p.His1612Pro
XM_011530709.1:c.4811A>C	XP_011529011.1:p.His1604Pro
XM_011530710.1:c.4808A>C	XP_011529012.1:p.His1603Pro
XM_011530711.1:c.4808A>C	XP_011529013.1:p.His1603Pro
XR_938344.1:n.4901A>C
NM_001365819.1:c.4706A>C	NP_001352748.1:p.His1569Pro
XM_005261935.2:c.4703A>C	XP_005261992.1:p.His1568Pro
XM_011530709.2:c.4811A>C	XP_011529011.1:p.His1604Pro
XM_011530710.2:c.4808A>C	XP_011529012.1:p.His1603Pro
XM_017028905.2:c.4733A>C	XP_016884394.1:p.His1578Pro
NM_002972.4:c.4781A>C MANE Select	NP_002963.2:p.His1594Pro