Canonical Allele Identifier: CA10316186

Gene: SBF1

Linked Data

• dbSNP Id: rs758633587
• ExAC: 22:50893493 G / A
• gnomAD v2: 22-50893493-G-A
• gnomAD v3: 22-50455064-G-A
• gnomAD v4: 22-50455064-G-A
• MyVariant Identifiers: chr22:g.50893493G>A (hg19) ; chr22:g.50455064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455064G>A , CM000684.2:g.50455064G>A	GRCh38
NC_000022.10:g.50893493G>A , CM000684.1:g.50893493G>A	GRCh37
NC_000022.9:g.49240359G>A	NCBI36
NG_041810.1:g.25008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4555C>T	ENSP00000252027.8:p.Arg1519Cys
ENST00000418590.4:c.265C>T	ENSP00000401538.2:p.Arg89Cys
ENST00000470434.2:n.1036C>T
ENST00000684986.1:c.4636C>T	ENSP00000509117.1:p.Arg1546Cys
ENST00000685180.1:n.2488+5470C>T
ENST00000685390.1:n.2601C>T
ENST00000685411.1:n.383C>T
ENST00000685592.1:c.867C>T
ENST00000685809.1:c.4546C>T	ENSP00000508863.1:p.Arg1516Cys
ENST00000686029.1:c.711C>T
ENST00000686191.1:n.3833C>T
ENST00000686222.1:c.*4055C>T	ENSP00000508737.1:n.*4055C>T
ENST00000686321.1:c.729C>T
ENST00000686427.1:c.*1568C>T	ENSP00000510379.1:n.*1568C>T
ENST00000686758.1:n.2376C>T
ENST00000686801.1:c.4621C>T	ENSP00000509915.1:p.Arg1541Cys
ENST00000686826.1:n.952C>T
ENST00000687016.1:c.4534C>T	ENSP00000509074.1:p.Arg1512Cys
ENST00000687704.1:c.*2358C>T	ENSP00000510454.1:n.*2358C>T
ENST00000688066.1:c.4633C>T	ENSP00000510782.1:p.Arg1545Cys
ENST00000688124.1:c.*3551C>T	ENSP00000510645.1:n.*3551C>T
ENST00000688848.1:c.*3977C>T	ENSP00000509419.1:n.*3977C>T
ENST00000688985.1:c.1634C>T	ENSP00000510477.1:n.1634C>T
ENST00000689129.1:c.4558C>T	ENSP00000510414.1:p.Arg1520Cys
ENST00000689177.1:n.5905C>T
ENST00000689849.1:c.729C>T
ENST00000689981.1:c.4633C>T	ENSP00000509035.1:p.Arg1545Cys
ENST00000690369.1:n.4651C>T
ENST00000690590.1:n.1680C>T
ENST00000690990.1:c.4627C>T	ENSP00000510461.1:p.Arg1543Cys
ENST00000691233.1:c.4552C>T	ENSP00000509215.1:p.Arg1518Cys
ENST00000691306.1:c.731C>T
ENST00000691345.1:n.2302+1152C>T
ENST00000691792.1:c.4621C>T	ENSP00000509911.1:p.Arg1541Cys
ENST00000691959.1:n.5352C>T
ENST00000692844.1:n.1717C>T
ENST00000692946.1:c.729C>T
ENST00000693052.1:c.4651C>T	ENSP00000509558.1:p.Arg1551Cys
ENST00000693289.1:n.1792C>T
ENST00000693440.1:c.4630C>T	ENSP00000509462.1:p.Arg1544Cys
ENST00000693499.1:n.5558C>T
ENST00000693591.1:n.3370C>T
ENST00000380817.8:c.4633C>T MANE Select	ENSP00000370196.2:p.Arg1545Cys
ENST00000348911.10:c.4558C>T	ENSP00000252027.7:p.Arg1520Cys
ENST00000380817.7:c.4633C>T	ENSP00000370196.2:p.Arg1545Cys
ENST00000418590.3:c.233C>T
ENST00000470434.1:n.774C>T
NM_002972.3:c.4633C>T	NP_002963.2:p.Arg1545Cys
XM_005261931.1:c.4636C>T	XP_005261988.1:p.Arg1546Cys
XM_005261935.1:c.4555C>T	XP_005261992.1:p.Arg1519Cys
XM_011530707.1:c.4735C>T	XP_011529009.1:p.Arg1579Cys
XM_011530708.1:c.4687C>T	XP_011529010.1:p.Arg1563Cys
XM_011530709.1:c.4663C>T	XP_011529011.1:p.Arg1555Cys
XM_011530710.1:c.4660C>T	XP_011529012.1:p.Arg1554Cys
XM_011530711.1:c.4660C>T	XP_011529013.1:p.Arg1554Cys
XR_938344.1:n.4753C>T
NM_001365819.1:c.4558C>T	NP_001352748.1:p.Arg1520Cys
XM_005261935.2:c.4555C>T	XP_005261992.1:p.Arg1519Cys
XM_011530709.2:c.4663C>T	XP_011529011.1:p.Arg1555Cys
XM_011530710.2:c.4660C>T	XP_011529012.1:p.Arg1554Cys
XM_017028905.2:c.4585C>T	XP_016884394.1:p.Arg1529Cys
NM_002972.4:c.4633C>T MANE Select	NP_002963.2:p.Arg1545Cys