Canonical Allele Identifier: CA515382739
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50455341C>T , CM000684.2:g.50455341C>T GRCh38
NC_000022.10:g.50893770C>T , CM000684.1:g.50893770C>T GRCh37
NC_000022.9:g.49240636C>T NCBI36
NG_041810.1:g.24731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348911.11:c.4359G>A ENSP00000252027.8:p.Val1453=
ENST00000418590.4:c.69G>A ENSP00000401538.2:p.Val23=
ENST00000470434.2:n.759G>A
ENST00000684986.1:c.4440G>A ENSP00000509117.1:p.Val1480=
ENST00000685180.1:n.2488+5193G>A
ENST00000685390.1:n.2405G>A
ENST00000685411.1:n.106G>A
ENST00000685592.1:c.671G>A
ENST00000685809.1:c.4350G>A ENSP00000508863.1:p.Val1450=
ENST00000686029.1:c.515G>A
ENST00000686191.1:n.3637G>A
ENST00000686222.1:c.*3859G>A ENSP00000508737.1:n.*3859G>A
ENST00000686321.1:c.533G>A
ENST00000686427.1:c.*1372G>A ENSP00000510379.1:n.*1372G>A
ENST00000686758.1:n.2099G>A
ENST00000686801.1:c.4425G>A ENSP00000509915.1:p.Val1475=
ENST00000686826.1:n.756G>A
ENST00000687016.1:c.4338G>A ENSP00000509074.1:p.Val1446=
ENST00000687704.1:c.*2162G>A ENSP00000510454.1:n.*2162G>A
ENST00000688066.1:c.4437G>A ENSP00000510782.1:p.Val1479=
ENST00000688124.1:c.*3355G>A ENSP00000510645.1:n.*3355G>A
ENST00000688848.1:c.*3781G>A ENSP00000509419.1:n.*3781G>A
ENST00000688985.1:c.1438G>A ENSP00000510477.1:n.1438G>A
ENST00000689129.1:c.4362G>A ENSP00000510414.1:p.Val1454=
ENST00000689177.1:n.5709G>A
ENST00000689849.1:c.533G>A
ENST00000689981.1:c.4437G>A ENSP00000509035.1:p.Val1479=
ENST00000690369.1:n.4455G>A
ENST00000690590.1:n.1484G>A
ENST00000690990.1:c.4431G>A ENSP00000510461.1:p.Val1477=
ENST00000691233.1:c.4356G>A ENSP00000509215.1:p.Val1452=
ENST00000691306.1:c.535G>A
ENST00000691345.1:n.2302+875G>A
ENST00000691792.1:c.4437G>A ENSP00000509911.1:p.Val1479=
ENST00000691959.1:n.5156G>A
ENST00000692844.1:n.1521G>A
ENST00000692946.1:c.533G>A
ENST00000693052.1:c.4455G>A ENSP00000509558.1:p.Val1485=
ENST00000693289.1:n.1596G>A
ENST00000693440.1:c.4434G>A ENSP00000509462.1:p.Val1478=
ENST00000693499.1:n.5362G>A
ENST00000693591.1:n.3174G>A
ENST00000380817.8:c.4437G>A MANE Select ENSP00000370196.2:p.Val1479=
ENST00000348911.10:c.4362G>A ENSP00000252027.7:p.Val1454=
ENST00000380817.7:c.4437G>A ENSP00000370196.2:p.Val1479=
ENST00000418590.3:c.37G>A
ENST00000470434.1:n.578G>A
NM_002972.3:c.4437G>A NP_002963.2:p.Val1479=
XM_005261931.1:c.4440G>A XP_005261988.1:p.Val1480=
XM_005261935.1:c.4359G>A XP_005261992.1:p.Val1453=
XM_011530707.1:c.4539G>A XP_011529009.1:p.Val1513=
XM_011530708.1:c.4491G>A XP_011529010.1:p.Val1497=
XM_011530709.1:c.4467G>A XP_011529011.1:p.Val1489=
XM_011530710.1:c.4464G>A XP_011529012.1:p.Val1488=
XM_011530711.1:c.4464G>A XP_011529013.1:p.Val1488=
XR_938344.1:n.4557G>A
NM_001365819.1:c.4362G>A NP_001352748.1:p.Val1454=
XM_005261935.2:c.4359G>A XP_005261992.1:p.Val1453=
XM_011530709.2:c.4467G>A XP_011529011.1:p.Val1489=
XM_011530710.2:c.4464G>A XP_011529012.1:p.Val1488=
XM_017028905.2:c.4389G>A XP_016884394.1:p.Val1463=
NM_002972.4:c.4437G>A MANE Select NP_002963.2:p.Val1479=