Canonical Allele Identifier: CA515382619

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893344T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454915T>G , CM000684.2:g.50454915T>G	GRCh38
NC_000022.10:g.50893344T>G , CM000684.1:g.50893344T>G	GRCh37
NC_000022.9:g.49240210T>G	NCBI36
NG_041810.1:g.25157A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4633A>C	ENSP00000252027.8:p.Arg1545=
ENST00000418590.4:c.343A>C	ENSP00000401538.2:p.Arg115=
ENST00000470434.2:n.1114A>C
ENST00000684986.1:c.4714A>C	ENSP00000509117.1:p.Arg1572=
ENST00000685180.1:n.2488+5619A>C
ENST00000685390.1:n.2679A>C
ENST00000685411.1:n.461A>C
ENST00000685592.1:c.945A>C
ENST00000685809.1:c.4624A>C	ENSP00000508863.1:p.Arg1542=
ENST00000686029.1:c.789A>C
ENST00000686191.1:n.3911A>C
ENST00000686222.1:c.*4133A>C	ENSP00000508737.1:n.*4133A>C
ENST00000686321.1:c.807A>C
ENST00000686427.1:c.*1646A>C	ENSP00000510379.1:n.*1646A>C
ENST00000686758.1:n.2525A>C
ENST00000686801.1:c.4699A>C	ENSP00000509915.1:p.Arg1567=
ENST00000686826.1:n.1030A>C
ENST00000687016.1:c.4612A>C	ENSP00000509074.1:p.Arg1538=
ENST00000687704.1:c.*2436A>C	ENSP00000510454.1:n.*2436A>C
ENST00000688066.1:c.4711A>C	ENSP00000510782.1:p.Arg1571=
ENST00000688124.1:c.*3629A>C	ENSP00000510645.1:n.*3629A>C
ENST00000688848.1:c.*4055A>C	ENSP00000509419.1:n.*4055A>C
ENST00000688985.1:c.1712A>C	ENSP00000510477.1:n.1712A>C
ENST00000689129.1:c.4636A>C	ENSP00000510414.1:p.Arg1546=
ENST00000689177.1:n.5983A>C
ENST00000689849.1:c.807A>C
ENST00000689981.1:c.4711A>C	ENSP00000509035.1:p.Arg1571=
ENST00000690369.1:n.4729A>C
ENST00000690590.1:n.1758A>C
ENST00000690990.1:c.4705A>C	ENSP00000510461.1:p.Arg1569=
ENST00000691233.1:c.4630A>C	ENSP00000509215.1:p.Arg1544=
ENST00000691306.1:c.792A>C
ENST00000691345.1:n.2302+1301A>C
ENST00000691792.1:c.4699A>C	ENSP00000509911.1:p.Arg1567=
ENST00000691959.1:n.5430A>C
ENST00000692844.1:n.1795A>C
ENST00000692946.1:c.807A>C
ENST00000693052.1:c.4729A>C	ENSP00000509558.1:p.Arg1577=
ENST00000693289.1:n.1870A>C
ENST00000693440.1:c.4708A>C	ENSP00000509462.1:p.Arg1570=
ENST00000693499.1:n.5707A>C
ENST00000693591.1:n.3519A>C
ENST00000380817.8:c.4711A>C MANE Select	ENSP00000370196.2:p.Arg1571=
ENST00000348911.10:c.4636A>C	ENSP00000252027.7:p.Arg1546=
ENST00000380817.7:c.4711A>C	ENSP00000370196.2:p.Arg1571=
ENST00000418590.3:c.311A>C
ENST00000470434.1:n.852A>C
NM_002972.3:c.4711A>C	NP_002963.2:p.Arg1571=
XM_005261931.1:c.4714A>C	XP_005261988.1:p.Arg1572=
XM_005261935.1:c.4633A>C	XP_005261992.1:p.Arg1545=
XM_011530707.1:c.4813A>C	XP_011529009.1:p.Arg1605=
XM_011530708.1:c.4765A>C	XP_011529010.1:p.Arg1589=
XM_011530709.1:c.4741A>C	XP_011529011.1:p.Arg1581=
XM_011530710.1:c.4738A>C	XP_011529012.1:p.Arg1580=
XM_011530711.1:c.4738A>C	XP_011529013.1:p.Arg1580=
XR_938344.1:n.4831A>C
NM_001365819.1:c.4636A>C	NP_001352748.1:p.Arg1546=
XM_005261935.2:c.4633A>C	XP_005261992.1:p.Arg1545=
XM_011530709.2:c.4741A>C	XP_011529011.1:p.Arg1581=
XM_011530710.2:c.4738A>C	XP_011529012.1:p.Arg1580=
XM_017028905.2:c.4663A>C	XP_016884394.1:p.Arg1555=
NM_002972.4:c.4711A>C MANE Select	NP_002963.2:p.Arg1571=