Canonical Allele Identifier: CA412194044

Gene: SBF1

Linked Data

• dbSNP Id: rs1460282848
• gnomAD v2: 22-50893459-T-C
• gnomAD v4: 22-50455030-T-C
• MyVariant Identifiers: chr22:g.50893459T>C (hg19) ; chr22:g.50455030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455030T>C , CM000684.2:g.50455030T>C	GRCh38
NC_000022.10:g.50893459T>C , CM000684.1:g.50893459T>C	GRCh37
NC_000022.9:g.49240325T>C	NCBI36
NG_041810.1:g.25042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4589A>G	ENSP00000252027.8:p.Glu1530Gly
ENST00000418590.4:c.299A>G	ENSP00000401538.2:p.Glu100Gly
ENST00000470434.2:n.1070A>G
ENST00000684986.1:c.4670A>G	ENSP00000509117.1:p.Glu1557Gly
ENST00000685180.1:n.2488+5504A>G
ENST00000685390.1:n.2635A>G
ENST00000685411.1:n.417A>G
ENST00000685592.1:c.901A>G
ENST00000685809.1:c.4580A>G	ENSP00000508863.1:p.Glu1527Gly
ENST00000686029.1:c.745A>G
ENST00000686191.1:n.3867A>G
ENST00000686222.1:c.*4089A>G	ENSP00000508737.1:n.*4089A>G
ENST00000686321.1:c.763A>G
ENST00000686427.1:c.*1602A>G	ENSP00000510379.1:n.*1602A>G
ENST00000686758.1:n.2410A>G
ENST00000686801.1:c.4655A>G	ENSP00000509915.1:p.Glu1552Gly
ENST00000686826.1:n.986A>G
ENST00000687016.1:c.4568A>G	ENSP00000509074.1:p.Glu1523Gly
ENST00000687704.1:c.*2392A>G	ENSP00000510454.1:n.*2392A>G
ENST00000688066.1:c.4667A>G	ENSP00000510782.1:p.Glu1556Gly
ENST00000688124.1:c.*3585A>G	ENSP00000510645.1:n.*3585A>G
ENST00000688848.1:c.*4011A>G	ENSP00000509419.1:n.*4011A>G
ENST00000688985.1:c.1668A>G	ENSP00000510477.1:n.1668A>G
ENST00000689129.1:c.4592A>G	ENSP00000510414.1:p.Glu1531Gly
ENST00000689177.1:n.5939A>G
ENST00000689849.1:c.763A>G
ENST00000689981.1:c.4667A>G	ENSP00000509035.1:p.Glu1556Gly
ENST00000690369.1:n.4685A>G
ENST00000690590.1:n.1714A>G
ENST00000690990.1:c.4661A>G	ENSP00000510461.1:p.Glu1554Gly
ENST00000691233.1:c.4586A>G	ENSP00000509215.1:p.Glu1529Gly
ENST00000691306.1:c.765A>G
ENST00000691345.1:n.2302+1186A>G
ENST00000691792.1:c.4655A>G	ENSP00000509911.1:p.Glu1552Gly
ENST00000691959.1:n.5386A>G
ENST00000692844.1:n.1751A>G
ENST00000692946.1:c.763A>G
ENST00000693052.1:c.4685A>G	ENSP00000509558.1:p.Glu1562Gly
ENST00000693289.1:n.1826A>G
ENST00000693440.1:c.4664A>G	ENSP00000509462.1:p.Glu1555Gly
ENST00000693499.1:n.5592A>G
ENST00000693591.1:n.3404A>G
ENST00000380817.8:c.4667A>G MANE Select	ENSP00000370196.2:p.Glu1556Gly
ENST00000348911.10:c.4592A>G	ENSP00000252027.7:p.Glu1531Gly
ENST00000380817.7:c.4667A>G	ENSP00000370196.2:p.Glu1556Gly
ENST00000418590.3:c.267A>G
ENST00000470434.1:n.808A>G
NM_002972.3:c.4667A>G	NP_002963.2:p.Glu1556Gly
XM_005261931.1:c.4670A>G	XP_005261988.1:p.Glu1557Gly
XM_005261935.1:c.4589A>G	XP_005261992.1:p.Glu1530Gly
XM_011530707.1:c.4769A>G	XP_011529009.1:p.Glu1590Gly
XM_011530708.1:c.4721A>G	XP_011529010.1:p.Glu1574Gly
XM_011530709.1:c.4697A>G	XP_011529011.1:p.Glu1566Gly
XM_011530710.1:c.4694A>G	XP_011529012.1:p.Glu1565Gly
XM_011530711.1:c.4694A>G	XP_011529013.1:p.Glu1565Gly
XR_938344.1:n.4787A>G
NM_001365819.1:c.4592A>G	NP_001352748.1:p.Glu1531Gly
XM_005261935.2:c.4589A>G	XP_005261992.1:p.Glu1530Gly
XM_011530709.2:c.4697A>G	XP_011529011.1:p.Glu1566Gly
XM_011530710.2:c.4694A>G	XP_011529012.1:p.Glu1565Gly
XM_017028905.2:c.4619A>G	XP_016884394.1:p.Glu1540Gly
NM_002972.4:c.4667A>G MANE Select	NP_002963.2:p.Glu1556Gly