Canonical Allele Identifier: CA515382788

Gene: SBF1

Linked Data

• dbSNP Id: rs2067193231
• gnomAD v4: 22-50455041-G-A
• MyVariant Identifiers: chr22:g.50893470G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455041G>A , CM000684.2:g.50455041G>A	GRCh38
NC_000022.10:g.50893470G>A , CM000684.1:g.50893470G>A	GRCh37
NC_000022.9:g.49240336G>A	NCBI36
NG_041810.1:g.25031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4578C>T	ENSP00000252027.8:p.Asp1526=
ENST00000418590.4:c.288C>T	ENSP00000401538.2:p.Asp96=
ENST00000470434.2:n.1059C>T
ENST00000684986.1:c.4659C>T	ENSP00000509117.1:p.Asp1553=
ENST00000685180.1:n.2488+5493C>T
ENST00000685390.1:n.2624C>T
ENST00000685411.1:n.406C>T
ENST00000685592.1:c.890C>T
ENST00000685809.1:c.4569C>T	ENSP00000508863.1:p.Asp1523=
ENST00000686029.1:c.734C>T
ENST00000686191.1:n.3856C>T
ENST00000686222.1:c.*4078C>T	ENSP00000508737.1:n.*4078C>T
ENST00000686321.1:c.752C>T
ENST00000686427.1:c.*1591C>T	ENSP00000510379.1:n.*1591C>T
ENST00000686758.1:n.2399C>T
ENST00000686801.1:c.4644C>T	ENSP00000509915.1:p.Asp1548=
ENST00000686826.1:n.975C>T
ENST00000687016.1:c.4557C>T	ENSP00000509074.1:p.Asp1519=
ENST00000687704.1:c.*2381C>T	ENSP00000510454.1:n.*2381C>T
ENST00000688066.1:c.4656C>T	ENSP00000510782.1:p.Asp1552=
ENST00000688124.1:c.*3574C>T	ENSP00000510645.1:n.*3574C>T
ENST00000688848.1:c.*4000C>T	ENSP00000509419.1:n.*4000C>T
ENST00000688985.1:c.1657C>T	ENSP00000510477.1:n.1657C>T
ENST00000689129.1:c.4581C>T	ENSP00000510414.1:p.Asp1527=
ENST00000689177.1:n.5928C>T
ENST00000689849.1:c.752C>T
ENST00000689981.1:c.4656C>T	ENSP00000509035.1:p.Asp1552=
ENST00000690369.1:n.4674C>T
ENST00000690590.1:n.1703C>T
ENST00000690990.1:c.4650C>T	ENSP00000510461.1:p.Asp1550=
ENST00000691233.1:c.4575C>T	ENSP00000509215.1:p.Asp1525=
ENST00000691306.1:c.754C>T
ENST00000691345.1:n.2302+1175C>T
ENST00000691792.1:c.4644C>T	ENSP00000509911.1:p.Asp1548=
ENST00000691959.1:n.5375C>T
ENST00000692844.1:n.1740C>T
ENST00000692946.1:c.752C>T
ENST00000693052.1:c.4674C>T	ENSP00000509558.1:p.Asp1558=
ENST00000693289.1:n.1815C>T
ENST00000693440.1:c.4653C>T	ENSP00000509462.1:p.Asp1551=
ENST00000693499.1:n.5581C>T
ENST00000693591.1:n.3393C>T
ENST00000380817.8:c.4656C>T MANE Select	ENSP00000370196.2:p.Asp1552=
ENST00000348911.10:c.4581C>T	ENSP00000252027.7:p.Asp1527=
ENST00000380817.7:c.4656C>T	ENSP00000370196.2:p.Asp1552=
ENST00000418590.3:c.256C>T
ENST00000470434.1:n.797C>T
NM_002972.3:c.4656C>T	NP_002963.2:p.Asp1552=
XM_005261931.1:c.4659C>T	XP_005261988.1:p.Asp1553=
XM_005261935.1:c.4578C>T	XP_005261992.1:p.Asp1526=
XM_011530707.1:c.4758C>T	XP_011529009.1:p.Asp1586=
XM_011530708.1:c.4710C>T	XP_011529010.1:p.Asp1570=
XM_011530709.1:c.4686C>T	XP_011529011.1:p.Asp1562=
XM_011530710.1:c.4683C>T	XP_011529012.1:p.Asp1561=
XM_011530711.1:c.4683C>T	XP_011529013.1:p.Asp1561=
XR_938344.1:n.4776C>T
NM_001365819.1:c.4581C>T	NP_001352748.1:p.Asp1527=
XM_005261935.2:c.4578C>T	XP_005261992.1:p.Asp1526=
XM_011530709.2:c.4686C>T	XP_011529011.1:p.Asp1562=
XM_011530710.2:c.4683C>T	XP_011529012.1:p.Asp1561=
XM_017028905.2:c.4608C>T	XP_016884394.1:p.Asp1536=
NM_002972.4:c.4656C>T MANE Select	NP_002963.2:p.Asp1552=