Canonical Allele Identifier: CA412192743

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454735-C-A
• MyVariant Identifiers: chr22:g.50893164C>A (hg19) ; chr22:g.50454735C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454735C>A , CM000684.2:g.50454735C>A	GRCh38
NC_000022.10:g.50893164C>A , CM000684.1:g.50893164C>A	GRCh37
NC_000022.9:g.49240030C>A	NCBI36
NG_041810.1:g.25337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4742G>T	ENSP00000252027.8:p.Arg1581Leu
ENST00000418590.4:c.445-29G>T	ENSP00000401538.2:n.445-29G>T
ENST00000470434.2:n.1223G>T
ENST00000684986.1:c.4823G>T	ENSP00000509117.1:p.Arg1608Leu
ENST00000685180.1:n.2488+5799G>T
ENST00000685390.1:n.2781-10G>T
ENST00000685411.1:n.570G>T
ENST00000685592.1:c.1054G>T
ENST00000685809.1:c.4733G>T	ENSP00000508863.1:p.Arg1578Leu
ENST00000686191.1:n.4020G>T
ENST00000686222.1:c.*4242G>T	ENSP00000508737.1:n.*4242G>T
ENST00000686321.1:c.916G>T
ENST00000686427.1:c.*1755G>T	ENSP00000510379.1:n.*1755G>T
ENST00000686758.1:n.2634G>T
ENST00000686801.1:c.4808G>T	ENSP00000509915.1:p.Arg1603Leu
ENST00000686826.1:n.1139G>T
ENST00000687016.1:c.4721G>T	ENSP00000509074.1:p.Arg1574Leu
ENST00000687704.1:c.*2616G>T	ENSP00000510454.1:n.*2616G>T
ENST00000688066.1:c.4820G>T	ENSP00000510782.1:p.Arg1607Leu
ENST00000688124.1:c.*3731-10G>T	ENSP00000510645.1:n.*3731-10G>T
ENST00000688848.1:c.*4164G>T	ENSP00000509419.1:n.*4164G>T
ENST00000688985.1:c.1821G>T	ENSP00000510477.1:n.1821G>T
ENST00000689129.1:c.4745G>T	ENSP00000510414.1:p.Arg1582Leu
ENST00000689177.1:n.6092G>T
ENST00000689849.1:c.916G>T
ENST00000689981.1:c.4820G>T	ENSP00000509035.1:p.Arg1607Leu
ENST00000690369.1:n.4838G>T
ENST00000690590.1:n.1867G>T
ENST00000690990.1:c.4814G>T	ENSP00000510461.1:p.Arg1605Leu
ENST00000691233.1:c.4739G>T	ENSP00000509215.1:p.Arg1580Leu
ENST00000691306.1:c.901G>T
ENST00000691345.1:n.2302+1481G>T
ENST00000691792.1:c.4808G>T	ENSP00000509911.1:p.Arg1603Leu
ENST00000691959.1:n.5539G>T
ENST00000692844.1:n.1904G>T
ENST00000692946.1:c.916G>T
ENST00000693052.1:c.4838G>T	ENSP00000509558.1:p.Arg1613Leu
ENST00000693289.1:n.1979G>T
ENST00000693440.1:c.4817G>T	ENSP00000509462.1:p.Arg1606Leu
ENST00000693499.1:n.5816G>T
ENST00000693591.1:n.3628G>T
ENST00000380817.8:c.4820G>T MANE Select	ENSP00000370196.2:p.Arg1607Leu
ENST00000348911.10:c.4745G>T	ENSP00000252027.7:p.Arg1582Leu
ENST00000380817.7:c.4820G>T	ENSP00000370196.2:p.Arg1607Leu
ENST00000418590.3:c.413-29G>T
ENST00000470434.1:n.961G>T
NM_002972.3:c.4820G>T	NP_002963.2:p.Arg1607Leu
XM_005261931.1:c.4823G>T	XP_005261988.1:p.Arg1608Leu
XM_005261935.1:c.4742G>T	XP_005261992.1:p.Arg1581Leu
XM_011530707.1:c.4922G>T	XP_011529009.1:p.Arg1641Leu
XM_011530708.1:c.4874G>T	XP_011529010.1:p.Arg1625Leu
XM_011530709.1:c.4850G>T	XP_011529011.1:p.Arg1617Leu
XM_011530710.1:c.4847G>T	XP_011529012.1:p.Arg1616Leu
XM_011530711.1:c.4847G>T	XP_011529013.1:p.Arg1616Leu
XR_938344.1:n.4940G>T
NM_001365819.1:c.4745G>T	NP_001352748.1:p.Arg1582Leu
XM_005261935.2:c.4742G>T	XP_005261992.1:p.Arg1581Leu
XM_011530709.2:c.4850G>T	XP_011529011.1:p.Arg1617Leu
XM_011530710.2:c.4847G>T	XP_011529012.1:p.Arg1616Leu
XM_017028905.2:c.4772G>T	XP_016884394.1:p.Arg1591Leu
NM_002972.4:c.4820G>T MANE Select	NP_002963.2:p.Arg1607Leu