Canonical Allele Identifier: CA515382470

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893282A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454853A>C , CM000684.2:g.50454853A>C	GRCh38
NC_000022.10:g.50893282A>C , CM000684.1:g.50893282A>C	GRCh37
NC_000022.9:g.49240148A>C	NCBI36
NG_041810.1:g.25219T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4695T>G	ENSP00000252027.8:p.Pro1565=
ENST00000418590.4:c.405T>G	ENSP00000401538.2:p.Pro135=
ENST00000470434.2:n.1176T>G
ENST00000684986.1:c.4776T>G	ENSP00000509117.1:p.Pro1592=
ENST00000685180.1:n.2488+5681T>G
ENST00000685390.1:n.2741T>G
ENST00000685411.1:n.523T>G
ENST00000685592.1:c.1007T>G
ENST00000685809.1:c.4686T>G	ENSP00000508863.1:p.Pro1562=
ENST00000686029.1:c.851T>G
ENST00000686191.1:n.3973T>G
ENST00000686222.1:c.*4195T>G	ENSP00000508737.1:n.*4195T>G
ENST00000686321.1:c.869T>G
ENST00000686427.1:c.*1708T>G	ENSP00000510379.1:n.*1708T>G
ENST00000686758.1:n.2587T>G
ENST00000686801.1:c.4761T>G	ENSP00000509915.1:p.Pro1587=
ENST00000686826.1:n.1092T>G
ENST00000687016.1:c.4674T>G	ENSP00000509074.1:p.Pro1558=
ENST00000687704.1:c.*2498T>G	ENSP00000510454.1:n.*2498T>G
ENST00000688066.1:c.4773T>G	ENSP00000510782.1:p.Pro1591=
ENST00000688124.1:c.*3691T>G	ENSP00000510645.1:n.*3691T>G
ENST00000688848.1:c.*4117T>G	ENSP00000509419.1:n.*4117T>G
ENST00000688985.1:c.1774T>G	ENSP00000510477.1:n.1774T>G
ENST00000689129.1:c.4698T>G	ENSP00000510414.1:p.Pro1566=
ENST00000689177.1:n.6045T>G
ENST00000689849.1:c.869T>G
ENST00000689981.1:c.4773T>G	ENSP00000509035.1:p.Pro1591=
ENST00000690369.1:n.4791T>G
ENST00000690590.1:n.1820T>G
ENST00000690990.1:c.4767T>G	ENSP00000510461.1:p.Pro1589=
ENST00000691233.1:c.4692T>G	ENSP00000509215.1:p.Pro1564=
ENST00000691306.1:c.854T>G
ENST00000691345.1:n.2302+1363T>G
ENST00000691792.1:c.4761T>G	ENSP00000509911.1:p.Pro1587=
ENST00000691959.1:n.5492T>G
ENST00000692844.1:n.1857T>G
ENST00000692946.1:c.869T>G
ENST00000693052.1:c.4791T>G	ENSP00000509558.1:p.Pro1597=
ENST00000693289.1:n.1932T>G
ENST00000693440.1:c.4770T>G	ENSP00000509462.1:p.Pro1590=
ENST00000693499.1:n.5769T>G
ENST00000693591.1:n.3581T>G
ENST00000380817.8:c.4773T>G MANE Select	ENSP00000370196.2:p.Pro1591=
ENST00000348911.10:c.4698T>G	ENSP00000252027.7:p.Pro1566=
ENST00000380817.7:c.4773T>G	ENSP00000370196.2:p.Pro1591=
ENST00000418590.3:c.373T>G
ENST00000470434.1:n.914T>G
NM_002972.3:c.4773T>G	NP_002963.2:p.Pro1591=
XM_005261931.1:c.4776T>G	XP_005261988.1:p.Pro1592=
XM_005261935.1:c.4695T>G	XP_005261992.1:p.Pro1565=
XM_011530707.1:c.4875T>G	XP_011529009.1:p.Pro1625=
XM_011530708.1:c.4827T>G	XP_011529010.1:p.Pro1609=
XM_011530709.1:c.4803T>G	XP_011529011.1:p.Pro1601=
XM_011530710.1:c.4800T>G	XP_011529012.1:p.Pro1600=
XM_011530711.1:c.4800T>G	XP_011529013.1:p.Pro1600=
XR_938344.1:n.4893T>G
NM_001365819.1:c.4698T>G	NP_001352748.1:p.Pro1566=
XM_005261935.2:c.4695T>G	XP_005261992.1:p.Pro1565=
XM_011530709.2:c.4803T>G	XP_011529011.1:p.Pro1601=
XM_011530710.2:c.4800T>G	XP_011529012.1:p.Pro1600=
XM_017028905.2:c.4725T>G	XP_016884394.1:p.Pro1575=
NM_002972.4:c.4773T>G MANE Select	NP_002963.2:p.Pro1591=