Canonical Allele Identifier: CA10315899

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50448285G>A , CM000684.2:g.50448285G>A	GRCh38
NC_000022.10:g.50886714G>A , CM000684.1:g.50886714G>A	GRCh37
NC_000022.9:g.49233580G>A	NCBI36
NG_041810.1:g.31787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.5233C>T	ENSP00000252027.8:p.Arg1745Cys
ENST00000418590.4:c.907C>T	ENSP00000401538.2:p.Arg303Cys
ENST00000470434.2:n.1714C>T
ENST00000473724.2:n.450C>T
ENST00000684986.1:c.5314C>T	ENSP00000509117.1:p.Arg1772Cys
ENST00000685180.1:n.2854C>T
ENST00000685390.1:n.3262C>T
ENST00000685411.1:n.1061C>T
ENST00000685459.1:c.463C>T	ENSP00000509511.1:p.Arg155Cys
ENST00000685592.1:c.1561C>T
ENST00000685809.1:c.5224C>T	ENSP00000508863.1:p.Arg1742Cys
ENST00000686191.1:n.4511C>T
ENST00000686222.1:c.*4733C>T	ENSP00000508737.1:n.*4733C>T
ENST00000686321.1:c.1407C>T
ENST00000686427.1:c.*2243C>T	ENSP00000510379.1:n.*2243C>T
ENST00000686758.1:n.3125C>T
ENST00000686801.1:c.*149C>T	ENSP00000509915.1:n.*149C>T
ENST00000686826.1:n.1630C>T
ENST00000687016.1:c.5209C>T	ENSP00000509074.1:p.Arg1737Cys
ENST00000687704.1:c.*3107C>T	ENSP00000510454.1:n.*3107C>T
ENST00000688066.1:c.5311C>T	ENSP00000510782.1:p.Arg1771Cys
ENST00000688124.1:c.*4212C>T	ENSP00000510645.1:n.*4212C>T
ENST00000688381.1:c.463C>T	ENSP00000508847.1:p.Arg155Cys
ENST00000688848.1:c.*4655C>T	ENSP00000509419.1:n.*4655C>T
ENST00000688985.1:c.2312C>T	ENSP00000510477.1:n.2312C>T
ENST00000689129.1:c.5236C>T	ENSP00000510414.1:p.Arg1746Cys
ENST00000689177.1:n.6580C>T
ENST00000689849.1:c.1396C>T
ENST00000689981.1:c.5311C>T	ENSP00000509035.1:p.Arg1771Cys
ENST00000690369.1:n.5329C>T
ENST00000690590.1:n.2358C>T
ENST00000690990.1:c.5305C>T	ENSP00000510461.1:p.Arg1769Cys
ENST00000691233.1:c.5230C>T	ENSP00000509215.1:p.Arg1744Cys
ENST00000691345.1:n.2570C>T
ENST00000691792.1:c.5296C>T	ENSP00000509911.1:p.Arg1766Cys
ENST00000691959.1:n.6030C>T
ENST00000692844.1:n.2395C>T
ENST00000692946.1:c.1407C>T
ENST00000693052.1:c.5329C>T	ENSP00000509558.1:p.Arg1777Cys
ENST00000693068.1:c.394C>T	ENSP00000509997.1:p.Arg132Cys
ENST00000693440.1:c.5308C>T	ENSP00000509462.1:p.Arg1770Cys
ENST00000693591.1:n.4119C>T
ENST00000380817.8:c.5311C>T MANE Select	ENSP00000370196.2:p.Arg1771Cys
ENST00000348911.10:c.5236C>T	ENSP00000252027.7:p.Arg1746Cys
ENST00000380817.7:c.5311C>T	ENSP00000370196.2:p.Arg1771Cys
ENST00000418590.3:c.875C>T
ENST00000470434.1:n.1452C>T
NM_002972.3:c.5311C>T	NP_002963.2:p.Arg1771Cys
XM_005261931.1:c.5314C>T	XP_005261988.1:p.Arg1772Cys
XM_005261935.1:c.5233C>T	XP_005261992.1:p.Arg1745Cys
XM_011530707.1:c.5413C>T	XP_011529009.1:p.Arg1805Cys
XM_011530708.1:c.5365C>T	XP_011529010.1:p.Arg1789Cys
XM_011530709.1:c.5341C>T	XP_011529011.1:p.Arg1781Cys
XM_011530710.1:c.5338C>T	XP_011529012.1:p.Arg1780Cys
XM_011530711.1:c.5338C>T	XP_011529013.1:p.Arg1780Cys
XR_938344.1:n.5431C>T
NM_001365819.1:c.5236C>T	NP_001352748.1:p.Arg1746Cys
XM_005261935.2:c.5233C>T	XP_005261992.1:p.Arg1745Cys
XM_011530709.2:c.5341C>T	XP_011529011.1:p.Arg1781Cys
XM_011530710.2:c.5338C>T	XP_011529012.1:p.Arg1780Cys
XM_017028905.2:c.5263C>T	XP_016884394.1:p.Arg1755Cys
NM_002972.4:c.5311C>T MANE Select	NP_002963.2:p.Arg1771Cys