Canonical Allele Identifier: CA515382772

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893455G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455026G>T , CM000684.2:g.50455026G>T	GRCh38
NC_000022.10:g.50893455G>T , CM000684.1:g.50893455G>T	GRCh37
NC_000022.9:g.49240321G>T	NCBI36
NG_041810.1:g.25046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4593C>A	ENSP00000252027.8:p.Arg1531=
ENST00000418590.4:c.303C>A	ENSP00000401538.2:p.Arg101=
ENST00000470434.2:n.1074C>A
ENST00000684986.1:c.4674C>A	ENSP00000509117.1:p.Arg1558=
ENST00000685180.1:n.2488+5508C>A
ENST00000685390.1:n.2639C>A
ENST00000685411.1:n.421C>A
ENST00000685592.1:c.905C>A
ENST00000685809.1:c.4584C>A	ENSP00000508863.1:p.Arg1528=
ENST00000686029.1:c.749C>A
ENST00000686191.1:n.3871C>A
ENST00000686222.1:c.*4093C>A	ENSP00000508737.1:n.*4093C>A
ENST00000686321.1:c.767C>A
ENST00000686427.1:c.*1606C>A	ENSP00000510379.1:n.*1606C>A
ENST00000686758.1:n.2414C>A
ENST00000686801.1:c.4659C>A	ENSP00000509915.1:p.Arg1553=
ENST00000686826.1:n.990C>A
ENST00000687016.1:c.4572C>A	ENSP00000509074.1:p.Arg1524=
ENST00000687704.1:c.*2396C>A	ENSP00000510454.1:n.*2396C>A
ENST00000688066.1:c.4671C>A	ENSP00000510782.1:p.Arg1557=
ENST00000688124.1:c.*3589C>A	ENSP00000510645.1:n.*3589C>A
ENST00000688848.1:c.*4015C>A	ENSP00000509419.1:n.*4015C>A
ENST00000688985.1:c.1672C>A	ENSP00000510477.1:n.1672C>A
ENST00000689129.1:c.4596C>A	ENSP00000510414.1:p.Arg1532=
ENST00000689177.1:n.5943C>A
ENST00000689849.1:c.767C>A
ENST00000689981.1:c.4671C>A	ENSP00000509035.1:p.Arg1557=
ENST00000690369.1:n.4689C>A
ENST00000690590.1:n.1718C>A
ENST00000690990.1:c.4665C>A	ENSP00000510461.1:p.Arg1555=
ENST00000691233.1:c.4590C>A	ENSP00000509215.1:p.Arg1530=
ENST00000691306.1:c.769C>A
ENST00000691345.1:n.2302+1190C>A
ENST00000691792.1:c.4659C>A	ENSP00000509911.1:p.Arg1553=
ENST00000691959.1:n.5390C>A
ENST00000692844.1:n.1755C>A
ENST00000692946.1:c.767C>A
ENST00000693052.1:c.4689C>A	ENSP00000509558.1:p.Arg1563=
ENST00000693289.1:n.1830C>A
ENST00000693440.1:c.4668C>A	ENSP00000509462.1:p.Arg1556=
ENST00000693499.1:n.5596C>A
ENST00000693591.1:n.3408C>A
ENST00000380817.8:c.4671C>A MANE Select	ENSP00000370196.2:p.Arg1557=
ENST00000348911.10:c.4596C>A	ENSP00000252027.7:p.Arg1532=
ENST00000380817.7:c.4671C>A	ENSP00000370196.2:p.Arg1557=
ENST00000418590.3:c.271C>A
ENST00000470434.1:n.812C>A
NM_002972.3:c.4671C>A	NP_002963.2:p.Arg1557=
XM_005261931.1:c.4674C>A	XP_005261988.1:p.Arg1558=
XM_005261935.1:c.4593C>A	XP_005261992.1:p.Arg1531=
XM_011530707.1:c.4773C>A	XP_011529009.1:p.Arg1591=
XM_011530708.1:c.4725C>A	XP_011529010.1:p.Arg1575=
XM_011530709.1:c.4701C>A	XP_011529011.1:p.Arg1567=
XM_011530710.1:c.4698C>A	XP_011529012.1:p.Arg1566=
XM_011530711.1:c.4698C>A	XP_011529013.1:p.Arg1566=
XR_938344.1:n.4791C>A
NM_001365819.1:c.4596C>A	NP_001352748.1:p.Arg1532=
XM_005261935.2:c.4593C>A	XP_005261992.1:p.Arg1531=
XM_011530709.2:c.4701C>A	XP_011529011.1:p.Arg1567=
XM_011530710.2:c.4698C>A	XP_011529012.1:p.Arg1566=
XM_017028905.2:c.4623C>A	XP_016884394.1:p.Arg1541=
NM_002972.4:c.4671C>A MANE Select	NP_002963.2:p.Arg1557=