Canonical Allele Identifier: CA412194046

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893460C>T (hg19) ; chr22:g.50455031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455031C>T , CM000684.2:g.50455031C>T	GRCh38
NC_000022.10:g.50893460C>T , CM000684.1:g.50893460C>T	GRCh37
NC_000022.9:g.49240326C>T	NCBI36
NG_041810.1:g.25041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4588G>A	ENSP00000252027.8:p.Glu1530Lys
ENST00000418590.4:c.298G>A	ENSP00000401538.2:p.Glu100Lys
ENST00000470434.2:n.1069G>A
ENST00000684986.1:c.4669G>A	ENSP00000509117.1:p.Glu1557Lys
ENST00000685180.1:n.2488+5503G>A
ENST00000685390.1:n.2634G>A
ENST00000685411.1:n.416G>A
ENST00000685592.1:c.900G>A
ENST00000685809.1:c.4579G>A	ENSP00000508863.1:p.Glu1527Lys
ENST00000686029.1:c.744G>A
ENST00000686191.1:n.3866G>A
ENST00000686222.1:c.*4088G>A	ENSP00000508737.1:n.*4088G>A
ENST00000686321.1:c.762G>A
ENST00000686427.1:c.*1601G>A	ENSP00000510379.1:n.*1601G>A
ENST00000686758.1:n.2409G>A
ENST00000686801.1:c.4654G>A	ENSP00000509915.1:p.Glu1552Lys
ENST00000686826.1:n.985G>A
ENST00000687016.1:c.4567G>A	ENSP00000509074.1:p.Glu1523Lys
ENST00000687704.1:c.*2391G>A	ENSP00000510454.1:n.*2391G>A
ENST00000688066.1:c.4666G>A	ENSP00000510782.1:p.Glu1556Lys
ENST00000688124.1:c.*3584G>A	ENSP00000510645.1:n.*3584G>A
ENST00000688848.1:c.*4010G>A	ENSP00000509419.1:n.*4010G>A
ENST00000688985.1:c.1667G>A	ENSP00000510477.1:n.1667G>A
ENST00000689129.1:c.4591G>A	ENSP00000510414.1:p.Glu1531Lys
ENST00000689177.1:n.5938G>A
ENST00000689849.1:c.762G>A
ENST00000689981.1:c.4666G>A	ENSP00000509035.1:p.Glu1556Lys
ENST00000690369.1:n.4684G>A
ENST00000690590.1:n.1713G>A
ENST00000690990.1:c.4660G>A	ENSP00000510461.1:p.Glu1554Lys
ENST00000691233.1:c.4585G>A	ENSP00000509215.1:p.Glu1529Lys
ENST00000691306.1:c.764G>A
ENST00000691345.1:n.2302+1185G>A
ENST00000691792.1:c.4654G>A	ENSP00000509911.1:p.Glu1552Lys
ENST00000691959.1:n.5385G>A
ENST00000692844.1:n.1750G>A
ENST00000692946.1:c.762G>A
ENST00000693052.1:c.4684G>A	ENSP00000509558.1:p.Glu1562Lys
ENST00000693289.1:n.1825G>A
ENST00000693440.1:c.4663G>A	ENSP00000509462.1:p.Glu1555Lys
ENST00000693499.1:n.5591G>A
ENST00000693591.1:n.3403G>A
ENST00000380817.8:c.4666G>A MANE Select	ENSP00000370196.2:p.Glu1556Lys
ENST00000348911.10:c.4591G>A	ENSP00000252027.7:p.Glu1531Lys
ENST00000380817.7:c.4666G>A	ENSP00000370196.2:p.Glu1556Lys
ENST00000418590.3:c.266G>A
ENST00000470434.1:n.807G>A
NM_002972.3:c.4666G>A	NP_002963.2:p.Glu1556Lys
XM_005261931.1:c.4669G>A	XP_005261988.1:p.Glu1557Lys
XM_005261935.1:c.4588G>A	XP_005261992.1:p.Glu1530Lys
XM_011530707.1:c.4768G>A	XP_011529009.1:p.Glu1590Lys
XM_011530708.1:c.4720G>A	XP_011529010.1:p.Glu1574Lys
XM_011530709.1:c.4696G>A	XP_011529011.1:p.Glu1566Lys
XM_011530710.1:c.4693G>A	XP_011529012.1:p.Glu1565Lys
XM_011530711.1:c.4693G>A	XP_011529013.1:p.Glu1565Lys
XR_938344.1:n.4786G>A
NM_001365819.1:c.4591G>A	NP_001352748.1:p.Glu1531Lys
XM_005261935.2:c.4588G>A	XP_005261992.1:p.Glu1530Lys
XM_011530709.2:c.4696G>A	XP_011529011.1:p.Glu1566Lys
XM_011530710.2:c.4693G>A	XP_011529012.1:p.Glu1565Lys
XM_017028905.2:c.4618G>A	XP_016884394.1:p.Glu1540Lys
NM_002972.4:c.4666G>A MANE Select	NP_002963.2:p.Glu1556Lys