Canonical Allele Identifier: CA10316472

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50456656G>A , CM000684.2:g.50456656G>A	GRCh38
NC_000022.10:g.50895085G>A , CM000684.1:g.50895085G>A	GRCh37
NC_000022.9:g.49241951G>A	NCBI36
NG_041810.1:g.23416C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.3922C>T MANE Select	NP_002963.2:p.Arg1308Trp
ENST00000380817.8:c.3922C>T MANE Select	ENSP00000370196.2:p.Arg1308Trp
NM_001365819.1:c.3847C>T	NP_001352748.1:p.Arg1283Trp
NM_002972.3:c.3922C>T	NP_002963.2:p.Arg1308Trp
ENST00000348911.10:c.3847C>T	ENSP00000252027.7:p.Arg1283Trp
ENST00000348911.11:c.3844C>T	ENSP00000252027.8:p.Arg1282Trp
ENST00000380817.7:c.3922C>T	ENSP00000370196.2:p.Arg1308Trp
ENST00000470434.2:n.244C>T
ENST00000476293.1:n.332C>T
ENST00000684986.1:c.3925C>T	ENSP00000509117.1:p.Arg1309Trp
ENST00000685180.1:n.2488+3878C>T
ENST00000685390.1:n.1890C>T
ENST00000685592.1:c.156C>T
ENST00000685809.1:c.3835C>T	ENSP00000508863.1:p.Arg1279Trp
ENST00000686029.1:c.18C>T
ENST00000686191.1:n.3122C>T
ENST00000686222.1:c.*3344C>T	ENSP00000508737.1:n.*3344C>T
ENST00000686321.1:c.18C>T
ENST00000686427.1:c.*857C>T	ENSP00000510379.1:n.*857C>T
ENST00000686758.1:n.1584C>T
ENST00000686801.1:c.3910C>T	ENSP00000509915.1:p.Arg1304Trp
ENST00000686826.1:n.239C>T
ENST00000687016.1:c.3823C>T	ENSP00000509074.1:p.Arg1275Trp
ENST00000687704.1:c.*1647C>T	ENSP00000510454.1:n.*1647C>T
ENST00000688066.1:c.3922C>T	ENSP00000510782.1:p.Arg1308Trp
ENST00000688124.1:c.*2838C>T	ENSP00000510645.1:n.*2838C>T
ENST00000688848.1:c.*3266C>T	ENSP00000509419.1:n.*3266C>T
ENST00000688985.1:c.923C>T	ENSP00000510477.1:p.Pro308Leu
ENST00000689129.1:c.3847C>T	ENSP00000510414.1:p.Arg1283Trp
ENST00000689177.1:n.4561C>T
ENST00000689849.1:c.18C>T
ENST00000689981.1:c.3922C>T	ENSP00000509035.1:p.Arg1308Trp
ENST00000690369.1:n.3940C>T
ENST00000690590.1:n.969C>T
ENST00000690990.1:c.3916C>T	ENSP00000510461.1:p.Arg1306Trp
ENST00000691233.1:c.3841C>T	ENSP00000509215.1:p.Arg1281Trp
ENST00000691306.1:c.18C>T
ENST00000691345.1:n.1958C>T
ENST00000691792.1:c.3922C>T	ENSP00000509911.1:p.Arg1308Trp
ENST00000691959.1:n.4008C>T
ENST00000692844.1:n.1006C>T
ENST00000692946.1:c.18C>T
ENST00000693052.1:c.3940C>T	ENSP00000509558.1:p.Arg1314Trp
ENST00000693289.1:n.1081C>T
ENST00000693440.1:c.3919C>T	ENSP00000509462.1:p.Arg1307Trp
ENST00000693499.1:n.4847C>T
ENST00000693591.1:n.2026C>T
XM_005261931.1:c.3925C>T	XP_005261988.1:p.Arg1309Trp
XM_005261935.1:c.3844C>T	XP_005261992.1:p.Arg1282Trp
XM_005261935.2:c.3844C>T	XP_005261992.1:p.Arg1282Trp
XM_011530707.1:c.4024C>T	XP_011529009.1:p.Arg1342Trp
XM_011530708.1:c.3976C>T	XP_011529010.1:p.Arg1326Trp
XM_011530709.1:c.3952C>T	XP_011529011.1:p.Arg1318Trp
XM_011530709.2:c.3952C>T	XP_011529011.1:p.Arg1318Trp
XM_011530710.1:c.3949C>T	XP_011529012.1:p.Arg1317Trp
XM_011530710.2:c.3949C>T	XP_011529012.1:p.Arg1317Trp
XM_011530711.1:c.3949C>T	XP_011529013.1:p.Arg1317Trp
XM_017028905.2:c.3874C>T	XP_016884394.1:p.Arg1292Trp
XR_938344.1:n.4042C>T