Canonical Allele Identifier: CA412193677

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454931-C-G
• MyVariant Identifiers: chr22:g.50893360C>G (hg19) ; chr22:g.50454931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454931C>G , CM000684.2:g.50454931C>G	GRCh38
NC_000022.10:g.50893360C>G , CM000684.1:g.50893360C>G	GRCh37
NC_000022.9:g.49240226C>G	NCBI36
NG_041810.1:g.25141G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4617G>C	ENSP00000252027.8:p.Glu1539Asp
ENST00000418590.4:c.327G>C	ENSP00000401538.2:p.Glu109Asp
ENST00000470434.2:n.1098G>C
ENST00000684986.1:c.4698G>C	ENSP00000509117.1:p.Glu1566Asp
ENST00000685180.1:n.2488+5603G>C
ENST00000685390.1:n.2663G>C
ENST00000685411.1:n.445G>C
ENST00000685592.1:c.929G>C
ENST00000685809.1:c.4608G>C	ENSP00000508863.1:p.Glu1536Asp
ENST00000686029.1:c.773G>C
ENST00000686191.1:n.3895G>C
ENST00000686222.1:c.*4117G>C	ENSP00000508737.1:n.*4117G>C
ENST00000686321.1:c.791G>C
ENST00000686427.1:c.*1630G>C	ENSP00000510379.1:n.*1630G>C
ENST00000686758.1:n.2509G>C
ENST00000686801.1:c.4683G>C	ENSP00000509915.1:p.Glu1561Asp
ENST00000686826.1:n.1014G>C
ENST00000687016.1:c.4596G>C	ENSP00000509074.1:p.Glu1532Asp
ENST00000687704.1:c.*2420G>C	ENSP00000510454.1:n.*2420G>C
ENST00000688066.1:c.4695G>C	ENSP00000510782.1:p.Glu1565Asp
ENST00000688124.1:c.*3613G>C	ENSP00000510645.1:n.*3613G>C
ENST00000688848.1:c.*4039G>C	ENSP00000509419.1:n.*4039G>C
ENST00000688985.1:c.1696G>C	ENSP00000510477.1:n.1696G>C
ENST00000689129.1:c.4620G>C	ENSP00000510414.1:p.Glu1540Asp
ENST00000689177.1:n.5967G>C
ENST00000689849.1:c.791G>C
ENST00000689981.1:c.4695G>C	ENSP00000509035.1:p.Glu1565Asp
ENST00000690369.1:n.4713G>C
ENST00000690590.1:n.1742G>C
ENST00000690990.1:c.4689G>C	ENSP00000510461.1:p.Glu1563Asp
ENST00000691233.1:c.4614G>C	ENSP00000509215.1:p.Glu1538Asp
ENST00000691306.1:c.780-4G>C
ENST00000691345.1:n.2302+1285G>C
ENST00000691792.1:c.4683G>C	ENSP00000509911.1:p.Glu1561Asp
ENST00000691959.1:n.5414G>C
ENST00000692844.1:n.1779G>C
ENST00000692946.1:c.791G>C
ENST00000693052.1:c.4713G>C	ENSP00000509558.1:p.Glu1571Asp
ENST00000693289.1:n.1854G>C
ENST00000693440.1:c.4692G>C	ENSP00000509462.1:p.Glu1564Asp
ENST00000693499.1:n.5691G>C
ENST00000693591.1:n.3503G>C
ENST00000380817.8:c.4695G>C MANE Select	ENSP00000370196.2:p.Glu1565Asp
ENST00000348911.10:c.4620G>C	ENSP00000252027.7:p.Glu1540Asp
ENST00000380817.7:c.4695G>C	ENSP00000370196.2:p.Glu1565Asp
ENST00000418590.3:c.295G>C
ENST00000470434.1:n.836G>C
NM_002972.3:c.4695G>C	NP_002963.2:p.Glu1565Asp
XM_005261931.1:c.4698G>C	XP_005261988.1:p.Glu1566Asp
XM_005261935.1:c.4617G>C	XP_005261992.1:p.Glu1539Asp
XM_011530707.1:c.4797G>C	XP_011529009.1:p.Glu1599Asp
XM_011530708.1:c.4749G>C	XP_011529010.1:p.Glu1583Asp
XM_011530709.1:c.4725G>C	XP_011529011.1:p.Glu1575Asp
XM_011530710.1:c.4722G>C	XP_011529012.1:p.Glu1574Asp
XM_011530711.1:c.4722G>C	XP_011529013.1:p.Glu1574Asp
XR_938344.1:n.4815G>C
NM_001365819.1:c.4620G>C	NP_001352748.1:p.Glu1540Asp
XM_005261935.2:c.4617G>C	XP_005261992.1:p.Glu1539Asp
XM_011530709.2:c.4725G>C	XP_011529011.1:p.Glu1575Asp
XM_011530710.2:c.4722G>C	XP_011529012.1:p.Glu1574Asp
XM_017028905.2:c.4647G>C	XP_016884394.1:p.Glu1549Asp
NM_002972.4:c.4695G>C MANE Select	NP_002963.2:p.Glu1565Asp