Canonical Allele Identifier: CA412194313

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893492C>A (hg19) ; chr22:g.50455063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455063C>A , CM000684.2:g.50455063C>A	GRCh38
NC_000022.10:g.50893492C>A , CM000684.1:g.50893492C>A	GRCh37
NC_000022.9:g.49240358C>A	NCBI36
NG_041810.1:g.25009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4556G>T	ENSP00000252027.8:p.Arg1519Leu
ENST00000418590.4:c.266G>T	ENSP00000401538.2:p.Arg89Leu
ENST00000470434.2:n.1037G>T
ENST00000684986.1:c.4637G>T	ENSP00000509117.1:p.Arg1546Leu
ENST00000685180.1:n.2488+5471G>T
ENST00000685390.1:n.2602G>T
ENST00000685411.1:n.384G>T
ENST00000685592.1:c.868G>T
ENST00000685809.1:c.4547G>T	ENSP00000508863.1:p.Arg1516Leu
ENST00000686029.1:c.712G>T
ENST00000686191.1:n.3834G>T
ENST00000686222.1:c.*4056G>T	ENSP00000508737.1:n.*4056G>T
ENST00000686321.1:c.730G>T
ENST00000686427.1:c.*1569G>T	ENSP00000510379.1:n.*1569G>T
ENST00000686758.1:n.2377G>T
ENST00000686801.1:c.4622G>T	ENSP00000509915.1:p.Arg1541Leu
ENST00000686826.1:n.953G>T
ENST00000687016.1:c.4535G>T	ENSP00000509074.1:p.Arg1512Leu
ENST00000687704.1:c.*2359G>T	ENSP00000510454.1:n.*2359G>T
ENST00000688066.1:c.4634G>T	ENSP00000510782.1:p.Arg1545Leu
ENST00000688124.1:c.*3552G>T	ENSP00000510645.1:n.*3552G>T
ENST00000688848.1:c.*3978G>T	ENSP00000509419.1:n.*3978G>T
ENST00000688985.1:c.1635G>T	ENSP00000510477.1:n.1635G>T
ENST00000689129.1:c.4559G>T	ENSP00000510414.1:p.Arg1520Leu
ENST00000689177.1:n.5906G>T
ENST00000689849.1:c.730G>T
ENST00000689981.1:c.4634G>T	ENSP00000509035.1:p.Arg1545Leu
ENST00000690369.1:n.4652G>T
ENST00000690590.1:n.1681G>T
ENST00000690990.1:c.4628G>T	ENSP00000510461.1:p.Arg1543Leu
ENST00000691233.1:c.4553G>T	ENSP00000509215.1:p.Arg1518Leu
ENST00000691306.1:c.732G>T
ENST00000691345.1:n.2302+1153G>T
ENST00000691792.1:c.4622G>T	ENSP00000509911.1:p.Arg1541Leu
ENST00000691959.1:n.5353G>T
ENST00000692844.1:n.1718G>T
ENST00000692946.1:c.730G>T
ENST00000693052.1:c.4652G>T	ENSP00000509558.1:p.Arg1551Leu
ENST00000693289.1:n.1793G>T
ENST00000693440.1:c.4631G>T	ENSP00000509462.1:p.Arg1544Leu
ENST00000693499.1:n.5559G>T
ENST00000693591.1:n.3371G>T
ENST00000380817.8:c.4634G>T MANE Select	ENSP00000370196.2:p.Arg1545Leu
ENST00000348911.10:c.4559G>T	ENSP00000252027.7:p.Arg1520Leu
ENST00000380817.7:c.4634G>T	ENSP00000370196.2:p.Arg1545Leu
ENST00000418590.3:c.234G>T
ENST00000470434.1:n.775G>T
NM_002972.3:c.4634G>T	NP_002963.2:p.Arg1545Leu
XM_005261931.1:c.4637G>T	XP_005261988.1:p.Arg1546Leu
XM_005261935.1:c.4556G>T	XP_005261992.1:p.Arg1519Leu
XM_011530707.1:c.4736G>T	XP_011529009.1:p.Arg1579Leu
XM_011530708.1:c.4688G>T	XP_011529010.1:p.Arg1563Leu
XM_011530709.1:c.4664G>T	XP_011529011.1:p.Arg1555Leu
XM_011530710.1:c.4661G>T	XP_011529012.1:p.Arg1554Leu
XM_011530711.1:c.4661G>T	XP_011529013.1:p.Arg1554Leu
XR_938344.1:n.4754G>T
NM_001365819.1:c.4559G>T	NP_001352748.1:p.Arg1520Leu
XM_005261935.2:c.4556G>T	XP_005261992.1:p.Arg1519Leu
XM_011530709.2:c.4664G>T	XP_011529011.1:p.Arg1555Leu
XM_011530710.2:c.4661G>T	XP_011529012.1:p.Arg1554Leu
XM_017028905.2:c.4586G>T	XP_016884394.1:p.Arg1529Leu
NM_002972.4:c.4634G>T MANE Select	NP_002963.2:p.Arg1545Leu