Canonical Allele Identifier: CA412193434

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893329A>G (hg19) ; chr22:g.50454900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454900A>G , CM000684.2:g.50454900A>G	GRCh38
NC_000022.10:g.50893329A>G , CM000684.1:g.50893329A>G	GRCh37
NC_000022.9:g.49240195A>G	NCBI36
NG_041810.1:g.25172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4648T>C	ENSP00000252027.8:p.Cys1550Arg
ENST00000418590.4:c.358T>C	ENSP00000401538.2:p.Cys120Arg
ENST00000470434.2:n.1129T>C
ENST00000684986.1:c.4729T>C	ENSP00000509117.1:p.Cys1577Arg
ENST00000685180.1:n.2488+5634T>C
ENST00000685390.1:n.2694T>C
ENST00000685411.1:n.476T>C
ENST00000685592.1:c.960T>C
ENST00000685809.1:c.4639T>C	ENSP00000508863.1:p.Cys1547Arg
ENST00000686029.1:c.804T>C
ENST00000686191.1:n.3926T>C
ENST00000686222.1:c.*4148T>C	ENSP00000508737.1:n.*4148T>C
ENST00000686321.1:c.822T>C
ENST00000686427.1:c.*1661T>C	ENSP00000510379.1:n.*1661T>C
ENST00000686758.1:n.2540T>C
ENST00000686801.1:c.4714T>C	ENSP00000509915.1:p.Cys1572Arg
ENST00000686826.1:n.1045T>C
ENST00000687016.1:c.4627T>C	ENSP00000509074.1:p.Cys1543Arg
ENST00000687704.1:c.*2451T>C	ENSP00000510454.1:n.*2451T>C
ENST00000688066.1:c.4726T>C	ENSP00000510782.1:p.Cys1576Arg
ENST00000688124.1:c.*3644T>C	ENSP00000510645.1:n.*3644T>C
ENST00000688848.1:c.*4070T>C	ENSP00000509419.1:n.*4070T>C
ENST00000688985.1:c.1727T>C	ENSP00000510477.1:n.1727T>C
ENST00000689129.1:c.4651T>C	ENSP00000510414.1:p.Cys1551Arg
ENST00000689177.1:n.5998T>C
ENST00000689849.1:c.822T>C
ENST00000689981.1:c.4726T>C	ENSP00000509035.1:p.Cys1576Arg
ENST00000690369.1:n.4744T>C
ENST00000690590.1:n.1773T>C
ENST00000690990.1:c.4720T>C	ENSP00000510461.1:p.Cys1574Arg
ENST00000691233.1:c.4645T>C	ENSP00000509215.1:p.Cys1549Arg
ENST00000691306.1:c.807T>C
ENST00000691345.1:n.2302+1316T>C
ENST00000691792.1:c.4714T>C	ENSP00000509911.1:p.Cys1572Arg
ENST00000691959.1:n.5445T>C
ENST00000692844.1:n.1810T>C
ENST00000692946.1:c.822T>C
ENST00000693052.1:c.4744T>C	ENSP00000509558.1:p.Cys1582Arg
ENST00000693289.1:n.1885T>C
ENST00000693440.1:c.4723T>C	ENSP00000509462.1:p.Cys1575Arg
ENST00000693499.1:n.5722T>C
ENST00000693591.1:n.3534T>C
ENST00000380817.8:c.4726T>C MANE Select	ENSP00000370196.2:p.Cys1576Arg
ENST00000348911.10:c.4651T>C	ENSP00000252027.7:p.Cys1551Arg
ENST00000380817.7:c.4726T>C	ENSP00000370196.2:p.Cys1576Arg
ENST00000418590.3:c.326T>C
ENST00000470434.1:n.867T>C
NM_002972.3:c.4726T>C	NP_002963.2:p.Cys1576Arg
XM_005261931.1:c.4729T>C	XP_005261988.1:p.Cys1577Arg
XM_005261935.1:c.4648T>C	XP_005261992.1:p.Cys1550Arg
XM_011530707.1:c.4828T>C	XP_011529009.1:p.Cys1610Arg
XM_011530708.1:c.4780T>C	XP_011529010.1:p.Cys1594Arg
XM_011530709.1:c.4756T>C	XP_011529011.1:p.Cys1586Arg
XM_011530710.1:c.4753T>C	XP_011529012.1:p.Cys1585Arg
XM_011530711.1:c.4753T>C	XP_011529013.1:p.Cys1585Arg
XR_938344.1:n.4846T>C
NM_001365819.1:c.4651T>C	NP_001352748.1:p.Cys1551Arg
XM_005261935.2:c.4648T>C	XP_005261992.1:p.Cys1550Arg
XM_011530709.2:c.4756T>C	XP_011529011.1:p.Cys1586Arg
XM_011530710.2:c.4753T>C	XP_011529012.1:p.Cys1585Arg
XM_017028905.2:c.4678T>C	XP_016884394.1:p.Cys1560Arg
NM_002972.4:c.4726T>C MANE Select	NP_002963.2:p.Cys1576Arg