Canonical Allele Identifier: CA10316199

Gene: SBF1

Linked Data

• ClinVar Variation Id: 1369640
• ClinVar RCV Id: RCV001894944
• dbSNP Id: rs776103483
• ExAC: 22:50893538 T / C
• gnomAD v2: 22-50893538-T-C
• gnomAD v3: 22-50455109-T-C
• gnomAD v4: 22-50455109-T-C
• MyVariant Identifiers: chr22:g.50893538T>C (hg19) ; chr22:g.50455109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455109T>C , CM000684.2:g.50455109T>C	GRCh38
NC_000022.10:g.50893538T>C , CM000684.1:g.50893538T>C	GRCh37
NC_000022.9:g.49240404T>C	NCBI36
NG_041810.1:g.24963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4510A>G	ENSP00000252027.8:p.Ser1504Gly
ENST00000418590.4:c.220A>G	ENSP00000401538.2:p.Ser74Gly
ENST00000470434.2:n.991A>G
ENST00000684986.1:c.4591A>G	ENSP00000509117.1:p.Ser1531Gly
ENST00000685180.1:n.2488+5425A>G
ENST00000685390.1:n.2556A>G
ENST00000685411.1:n.338A>G
ENST00000685592.1:c.822A>G
ENST00000685809.1:c.4501A>G	ENSP00000508863.1:p.Ser1501Gly
ENST00000686029.1:c.666A>G
ENST00000686191.1:n.3788A>G
ENST00000686222.1:c.*4010A>G	ENSP00000508737.1:n.*4010A>G
ENST00000686321.1:c.684A>G
ENST00000686427.1:c.*1523A>G	ENSP00000510379.1:n.*1523A>G
ENST00000686758.1:n.2331A>G
ENST00000686801.1:c.4576A>G	ENSP00000509915.1:p.Ser1526Gly
ENST00000686826.1:n.907A>G
ENST00000687016.1:c.4489A>G	ENSP00000509074.1:p.Ser1497Gly
ENST00000687704.1:c.*2313A>G	ENSP00000510454.1:n.*2313A>G
ENST00000688066.1:c.4588A>G	ENSP00000510782.1:p.Ser1530Gly
ENST00000688124.1:c.*3506A>G	ENSP00000510645.1:n.*3506A>G
ENST00000688848.1:c.*3932A>G	ENSP00000509419.1:n.*3932A>G
ENST00000688985.1:c.1589A>G	ENSP00000510477.1:n.1589A>G
ENST00000689129.1:c.4513A>G	ENSP00000510414.1:p.Ser1505Gly
ENST00000689177.1:n.5860A>G
ENST00000689849.1:c.684A>G
ENST00000689981.1:c.4588A>G	ENSP00000509035.1:p.Ser1530Gly
ENST00000690369.1:n.4606A>G
ENST00000690590.1:n.1635A>G
ENST00000690990.1:c.4582A>G	ENSP00000510461.1:p.Ser1528Gly
ENST00000691233.1:c.4507A>G	ENSP00000509215.1:p.Ser1503Gly
ENST00000691306.1:c.686A>G
ENST00000691345.1:n.2302+1107A>G
ENST00000691792.1:c.4576A>G	ENSP00000509911.1:p.Ser1526Gly
ENST00000691959.1:n.5307A>G
ENST00000692844.1:n.1672A>G
ENST00000692946.1:c.684A>G
ENST00000693052.1:c.4606A>G	ENSP00000509558.1:p.Ser1536Gly
ENST00000693289.1:n.1747A>G
ENST00000693440.1:c.4585A>G	ENSP00000509462.1:p.Ser1529Gly
ENST00000693499.1:n.5513A>G
ENST00000693591.1:n.3325A>G
ENST00000380817.8:c.4588A>G MANE Select	ENSP00000370196.2:p.Ser1530Gly
ENST00000348911.10:c.4513A>G	ENSP00000252027.7:p.Ser1505Gly
ENST00000380817.7:c.4588A>G	ENSP00000370196.2:p.Ser1530Gly
ENST00000418590.3:c.188A>G
ENST00000470434.1:n.729A>G
NM_002972.3:c.4588A>G	NP_002963.2:p.Ser1530Gly
XM_005261931.1:c.4591A>G	XP_005261988.1:p.Ser1531Gly
XM_005261935.1:c.4510A>G	XP_005261992.1:p.Ser1504Gly
XM_011530707.1:c.4690A>G	XP_011529009.1:p.Ser1564Gly
XM_011530708.1:c.4642A>G	XP_011529010.1:p.Ser1548Gly
XM_011530709.1:c.4618A>G	XP_011529011.1:p.Ser1540Gly
XM_011530710.1:c.4615A>G	XP_011529012.1:p.Ser1539Gly
XM_011530711.1:c.4615A>G	XP_011529013.1:p.Ser1539Gly
XR_938344.1:n.4708A>G
NM_001365819.1:c.4513A>G	NP_001352748.1:p.Ser1505Gly
XM_005261935.2:c.4510A>G	XP_005261992.1:p.Ser1504Gly
XM_011530709.2:c.4618A>G	XP_011529011.1:p.Ser1540Gly
XM_011530710.2:c.4615A>G	XP_011529012.1:p.Ser1539Gly
XM_017028905.2:c.4540A>G	XP_016884394.1:p.Ser1514Gly
NM_002972.4:c.4588A>G MANE Select	NP_002963.2:p.Ser1530Gly