Canonical Allele Identifier: CA515382913

Gene: SBF1

Linked Data

• dbSNP Id: rs2067195533
• gnomAD v4: 22-50455095-G-C
• MyVariant Identifiers: chr22:g.50893524G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455095G>C , CM000684.2:g.50455095G>C	GRCh38
NC_000022.10:g.50893524G>C , CM000684.1:g.50893524G>C	GRCh37
NC_000022.9:g.49240390G>C	NCBI36
NG_041810.1:g.24977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4524C>G	ENSP00000252027.8:p.Leu1508=
ENST00000418590.4:c.234C>G	ENSP00000401538.2:p.Leu78=
ENST00000470434.2:n.1005C>G
ENST00000684986.1:c.4605C>G	ENSP00000509117.1:p.Leu1535=
ENST00000685180.1:n.2488+5439C>G
ENST00000685390.1:n.2570C>G
ENST00000685411.1:n.352C>G
ENST00000685592.1:c.836C>G
ENST00000685809.1:c.4515C>G	ENSP00000508863.1:p.Leu1505=
ENST00000686029.1:c.680C>G
ENST00000686191.1:n.3802C>G
ENST00000686222.1:c.*4024C>G	ENSP00000508737.1:n.*4024C>G
ENST00000686321.1:c.698C>G
ENST00000686427.1:c.*1537C>G	ENSP00000510379.1:n.*1537C>G
ENST00000686758.1:n.2345C>G
ENST00000686801.1:c.4590C>G	ENSP00000509915.1:p.Leu1530=
ENST00000686826.1:n.921C>G
ENST00000687016.1:c.4503C>G	ENSP00000509074.1:p.Leu1501=
ENST00000687704.1:c.*2327C>G	ENSP00000510454.1:n.*2327C>G
ENST00000688066.1:c.4602C>G	ENSP00000510782.1:p.Leu1534=
ENST00000688124.1:c.*3520C>G	ENSP00000510645.1:n.*3520C>G
ENST00000688848.1:c.*3946C>G	ENSP00000509419.1:n.*3946C>G
ENST00000688985.1:c.1603C>G	ENSP00000510477.1:n.1603C>G
ENST00000689129.1:c.4527C>G	ENSP00000510414.1:p.Leu1509=
ENST00000689177.1:n.5874C>G
ENST00000689849.1:c.698C>G
ENST00000689981.1:c.4602C>G	ENSP00000509035.1:p.Leu1534=
ENST00000690369.1:n.4620C>G
ENST00000690590.1:n.1649C>G
ENST00000690990.1:c.4596C>G	ENSP00000510461.1:p.Leu1532=
ENST00000691233.1:c.4521C>G	ENSP00000509215.1:p.Leu1507=
ENST00000691306.1:c.700C>G
ENST00000691345.1:n.2302+1121C>G
ENST00000691792.1:c.4590C>G	ENSP00000509911.1:p.Leu1530=
ENST00000691959.1:n.5321C>G
ENST00000692844.1:n.1686C>G
ENST00000692946.1:c.698C>G
ENST00000693052.1:c.4620C>G	ENSP00000509558.1:p.Leu1540=
ENST00000693289.1:n.1761C>G
ENST00000693440.1:c.4599C>G	ENSP00000509462.1:p.Leu1533=
ENST00000693499.1:n.5527C>G
ENST00000693591.1:n.3339C>G
ENST00000380817.8:c.4602C>G MANE Select	ENSP00000370196.2:p.Leu1534=
ENST00000348911.10:c.4527C>G	ENSP00000252027.7:p.Leu1509=
ENST00000380817.7:c.4602C>G	ENSP00000370196.2:p.Leu1534=
ENST00000418590.3:c.202C>G
ENST00000470434.1:n.743C>G
NM_002972.3:c.4602C>G	NP_002963.2:p.Leu1534=
XM_005261931.1:c.4605C>G	XP_005261988.1:p.Leu1535=
XM_005261935.1:c.4524C>G	XP_005261992.1:p.Leu1508=
XM_011530707.1:c.4704C>G	XP_011529009.1:p.Leu1568=
XM_011530708.1:c.4656C>G	XP_011529010.1:p.Leu1552=
XM_011530709.1:c.4632C>G	XP_011529011.1:p.Leu1544=
XM_011530710.1:c.4629C>G	XP_011529012.1:p.Leu1543=
XM_011530711.1:c.4629C>G	XP_011529013.1:p.Leu1543=
XR_938344.1:n.4722C>G
NM_001365819.1:c.4527C>G	NP_001352748.1:p.Leu1509=
XM_005261935.2:c.4524C>G	XP_005261992.1:p.Leu1508=
XM_011530709.2:c.4632C>G	XP_011529011.1:p.Leu1544=
XM_011530710.2:c.4629C>G	XP_011529012.1:p.Leu1543=
XM_017028905.2:c.4554C>G	XP_016884394.1:p.Leu1518=
NM_002972.4:c.4602C>G MANE Select	NP_002963.2:p.Leu1534=