Canonical Allele Identifier: CA412194078

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893465T>C (hg19) ; chr22:g.50455036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455036T>C , CM000684.2:g.50455036T>C	GRCh38
NC_000022.10:g.50893465T>C , CM000684.1:g.50893465T>C	GRCh37
NC_000022.9:g.49240331T>C	NCBI36
NG_041810.1:g.25036A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4583A>G	ENSP00000252027.8:p.Asp1528Gly
ENST00000418590.4:c.293A>G	ENSP00000401538.2:p.Asp98Gly
ENST00000470434.2:n.1064A>G
ENST00000684986.1:c.4664A>G	ENSP00000509117.1:p.Asp1555Gly
ENST00000685180.1:n.2488+5498A>G
ENST00000685390.1:n.2629A>G
ENST00000685411.1:n.411A>G
ENST00000685592.1:c.895A>G
ENST00000685809.1:c.4574A>G	ENSP00000508863.1:p.Asp1525Gly
ENST00000686029.1:c.739A>G
ENST00000686191.1:n.3861A>G
ENST00000686222.1:c.*4083A>G	ENSP00000508737.1:n.*4083A>G
ENST00000686321.1:c.757A>G
ENST00000686427.1:c.*1596A>G	ENSP00000510379.1:n.*1596A>G
ENST00000686758.1:n.2404A>G
ENST00000686801.1:c.4649A>G	ENSP00000509915.1:p.Asp1550Gly
ENST00000686826.1:n.980A>G
ENST00000687016.1:c.4562A>G	ENSP00000509074.1:p.Asp1521Gly
ENST00000687704.1:c.*2386A>G	ENSP00000510454.1:n.*2386A>G
ENST00000688066.1:c.4661A>G	ENSP00000510782.1:p.Asp1554Gly
ENST00000688124.1:c.*3579A>G	ENSP00000510645.1:n.*3579A>G
ENST00000688848.1:c.*4005A>G	ENSP00000509419.1:n.*4005A>G
ENST00000688985.1:c.1662A>G	ENSP00000510477.1:n.1662A>G
ENST00000689129.1:c.4586A>G	ENSP00000510414.1:p.Asp1529Gly
ENST00000689177.1:n.5933A>G
ENST00000689849.1:c.757A>G
ENST00000689981.1:c.4661A>G	ENSP00000509035.1:p.Asp1554Gly
ENST00000690369.1:n.4679A>G
ENST00000690590.1:n.1708A>G
ENST00000690990.1:c.4655A>G	ENSP00000510461.1:p.Asp1552Gly
ENST00000691233.1:c.4580A>G	ENSP00000509215.1:p.Asp1527Gly
ENST00000691306.1:c.759A>G
ENST00000691345.1:n.2302+1180A>G
ENST00000691792.1:c.4649A>G	ENSP00000509911.1:p.Asp1550Gly
ENST00000691959.1:n.5380A>G
ENST00000692844.1:n.1745A>G
ENST00000692946.1:c.757A>G
ENST00000693052.1:c.4679A>G	ENSP00000509558.1:p.Asp1560Gly
ENST00000693289.1:n.1820A>G
ENST00000693440.1:c.4658A>G	ENSP00000509462.1:p.Asp1553Gly
ENST00000693499.1:n.5586A>G
ENST00000693591.1:n.3398A>G
ENST00000380817.8:c.4661A>G MANE Select	ENSP00000370196.2:p.Asp1554Gly
ENST00000348911.10:c.4586A>G	ENSP00000252027.7:p.Asp1529Gly
ENST00000380817.7:c.4661A>G	ENSP00000370196.2:p.Asp1554Gly
ENST00000418590.3:c.261A>G
ENST00000470434.1:n.802A>G
NM_002972.3:c.4661A>G	NP_002963.2:p.Asp1554Gly
XM_005261931.1:c.4664A>G	XP_005261988.1:p.Asp1555Gly
XM_005261935.1:c.4583A>G	XP_005261992.1:p.Asp1528Gly
XM_011530707.1:c.4763A>G	XP_011529009.1:p.Asp1588Gly
XM_011530708.1:c.4715A>G	XP_011529010.1:p.Asp1572Gly
XM_011530709.1:c.4691A>G	XP_011529011.1:p.Asp1564Gly
XM_011530710.1:c.4688A>G	XP_011529012.1:p.Asp1563Gly
XM_011530711.1:c.4688A>G	XP_011529013.1:p.Asp1563Gly
XR_938344.1:n.4781A>G
NM_001365819.1:c.4586A>G	NP_001352748.1:p.Asp1529Gly
XM_005261935.2:c.4583A>G	XP_005261992.1:p.Asp1528Gly
XM_011530709.2:c.4691A>G	XP_011529011.1:p.Asp1564Gly
XM_011530710.2:c.4688A>G	XP_011529012.1:p.Asp1563Gly
XM_017028905.2:c.4613A>G	XP_016884394.1:p.Asp1538Gly
NM_002972.4:c.4661A>G MANE Select	NP_002963.2:p.Asp1554Gly