Canonical Allele Identifier: CA10315993

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50448587G>A , CM000684.2:g.50448587G>A	GRCh38
NC_000022.10:g.50887016G>A , CM000684.1:g.50887016G>A	GRCh37
NC_000022.9:g.49233882G>A	NCBI36
NG_041810.1:g.31485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.5029C>T	ENSP00000252027.8:p.Arg1677Trp
ENST00000418590.4:c.703C>T	ENSP00000401538.2:p.Arg235Trp
ENST00000470434.2:n.1510C>T
ENST00000473724.2:n.246C>T
ENST00000684986.1:c.5110C>T	ENSP00000509117.1:p.Arg1704Trp
ENST00000685180.1:n.2552C>T
ENST00000685390.1:n.3058C>T
ENST00000685411.1:n.857C>T
ENST00000685459.1:c.259C>T	ENSP00000509511.1:p.Arg87Trp
ENST00000685592.1:c.1341C>T
ENST00000685809.1:c.5020C>T	ENSP00000508863.1:p.Arg1674Trp
ENST00000686191.1:n.4307C>T
ENST00000686222.1:c.*4529C>T	ENSP00000508737.1:n.*4529C>T
ENST00000686321.1:c.1203C>T
ENST00000686427.1:c.*2039C>T	ENSP00000510379.1:n.*2039C>T
ENST00000686758.1:n.2921C>T
ENST00000686801.1:c.5095C>T	ENSP00000509915.1:p.Arg1699Trp
ENST00000686826.1:n.1426C>T
ENST00000687016.1:c.5005C>T	ENSP00000509074.1:p.Arg1669Trp
ENST00000687704.1:c.*2903C>T	ENSP00000510454.1:n.*2903C>T
ENST00000688066.1:c.5107C>T	ENSP00000510782.1:p.Arg1703Trp
ENST00000688124.1:c.*4008C>T	ENSP00000510645.1:n.*4008C>T
ENST00000688381.1:c.259C>T	ENSP00000508847.1:p.Arg87Trp
ENST00000688848.1:c.*4451C>T	ENSP00000509419.1:n.*4451C>T
ENST00000688985.1:c.2108C>T	ENSP00000510477.1:n.2108C>T
ENST00000689129.1:c.5032C>T	ENSP00000510414.1:p.Arg1678Trp
ENST00000689177.1:n.6376C>T
ENST00000689849.1:c.1203C>T
ENST00000689981.1:c.5107C>T	ENSP00000509035.1:p.Arg1703Trp
ENST00000690369.1:n.5125C>T
ENST00000690590.1:n.2154C>T
ENST00000690990.1:c.5101C>T	ENSP00000510461.1:p.Arg1701Trp
ENST00000691233.1:c.5026C>T	ENSP00000509215.1:p.Arg1676Trp
ENST00000691306.1:c.1188C>T
ENST00000691345.1:n.2366C>T
ENST00000691792.1:c.5092C>T	ENSP00000509911.1:p.Arg1698Trp
ENST00000691959.1:n.5826C>T
ENST00000692844.1:n.2191C>T
ENST00000692946.1:c.1203C>T
ENST00000693052.1:c.5125C>T	ENSP00000509558.1:p.Arg1709Trp
ENST00000693068.1:c.259C>T	ENSP00000509997.1:p.Arg87Trp
ENST00000693440.1:c.5104C>T	ENSP00000509462.1:p.Arg1702Trp
ENST00000693591.1:n.3915C>T
ENST00000380817.8:c.5107C>T MANE Select	ENSP00000370196.2:p.Arg1703Trp
ENST00000348911.10:c.5032C>T	ENSP00000252027.7:p.Arg1678Trp
ENST00000380817.7:c.5107C>T	ENSP00000370196.2:p.Arg1703Trp
ENST00000418590.3:c.671C>T
ENST00000470434.1:n.1248C>T
NM_002972.3:c.5107C>T	NP_002963.2:p.Arg1703Trp
XM_005261931.1:c.5110C>T	XP_005261988.1:p.Arg1704Trp
XM_005261935.1:c.5029C>T	XP_005261992.1:p.Arg1677Trp
XM_011530707.1:c.5209C>T	XP_011529009.1:p.Arg1737Trp
XM_011530708.1:c.5161C>T	XP_011529010.1:p.Arg1721Trp
XM_011530709.1:c.5137C>T	XP_011529011.1:p.Arg1713Trp
XM_011530710.1:c.5134C>T	XP_011529012.1:p.Arg1712Trp
XM_011530711.1:c.5134C>T	XP_011529013.1:p.Arg1712Trp
XR_938344.1:n.5227C>T
NM_001365819.1:c.5032C>T	NP_001352748.1:p.Arg1678Trp
XM_005261935.2:c.5029C>T	XP_005261992.1:p.Arg1677Trp
XM_011530709.2:c.5137C>T	XP_011529011.1:p.Arg1713Trp
XM_011530710.2:c.5134C>T	XP_011529012.1:p.Arg1712Trp
XM_017028905.2:c.5059C>T	XP_016884394.1:p.Arg1687Trp
NM_002972.4:c.5107C>T MANE Select	NP_002963.2:p.Arg1703Trp