Canonical Allele Identifier: CA412194219

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893479G>C (hg19) ; chr22:g.50455050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455050G>C , CM000684.2:g.50455050G>C	GRCh38
NC_000022.10:g.50893479G>C , CM000684.1:g.50893479G>C	GRCh37
NC_000022.9:g.49240345G>C	NCBI36
NG_041810.1:g.25022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4569C>G	ENSP00000252027.8:p.Phe1523Leu
ENST00000418590.4:c.279C>G	ENSP00000401538.2:p.Phe93Leu
ENST00000470434.2:n.1050C>G
ENST00000684986.1:c.4650C>G	ENSP00000509117.1:p.Phe1550Leu
ENST00000685180.1:n.2488+5484C>G
ENST00000685390.1:n.2615C>G
ENST00000685411.1:n.397C>G
ENST00000685592.1:c.881C>G
ENST00000685809.1:c.4560C>G	ENSP00000508863.1:p.Phe1520Leu
ENST00000686029.1:c.725C>G
ENST00000686191.1:n.3847C>G
ENST00000686222.1:c.*4069C>G	ENSP00000508737.1:n.*4069C>G
ENST00000686321.1:c.743C>G
ENST00000686427.1:c.*1582C>G	ENSP00000510379.1:n.*1582C>G
ENST00000686758.1:n.2390C>G
ENST00000686801.1:c.4635C>G	ENSP00000509915.1:p.Phe1545Leu
ENST00000686826.1:n.966C>G
ENST00000687016.1:c.4548C>G	ENSP00000509074.1:p.Phe1516Leu
ENST00000687704.1:c.*2372C>G	ENSP00000510454.1:n.*2372C>G
ENST00000688066.1:c.4647C>G	ENSP00000510782.1:p.Phe1549Leu
ENST00000688124.1:c.*3565C>G	ENSP00000510645.1:n.*3565C>G
ENST00000688848.1:c.*3991C>G	ENSP00000509419.1:n.*3991C>G
ENST00000688985.1:c.1648C>G	ENSP00000510477.1:n.1648C>G
ENST00000689129.1:c.4572C>G	ENSP00000510414.1:p.Phe1524Leu
ENST00000689177.1:n.5919C>G
ENST00000689849.1:c.743C>G
ENST00000689981.1:c.4647C>G	ENSP00000509035.1:p.Phe1549Leu
ENST00000690369.1:n.4665C>G
ENST00000690590.1:n.1694C>G
ENST00000690990.1:c.4641C>G	ENSP00000510461.1:p.Phe1547Leu
ENST00000691233.1:c.4566C>G	ENSP00000509215.1:p.Phe1522Leu
ENST00000691306.1:c.745C>G
ENST00000691345.1:n.2302+1166C>G
ENST00000691792.1:c.4635C>G	ENSP00000509911.1:p.Phe1545Leu
ENST00000691959.1:n.5366C>G
ENST00000692844.1:n.1731C>G
ENST00000692946.1:c.743C>G
ENST00000693052.1:c.4665C>G	ENSP00000509558.1:p.Phe1555Leu
ENST00000693289.1:n.1806C>G
ENST00000693440.1:c.4644C>G	ENSP00000509462.1:p.Phe1548Leu
ENST00000693499.1:n.5572C>G
ENST00000693591.1:n.3384C>G
ENST00000380817.8:c.4647C>G MANE Select	ENSP00000370196.2:p.Phe1549Leu
ENST00000348911.10:c.4572C>G	ENSP00000252027.7:p.Phe1524Leu
ENST00000380817.7:c.4647C>G	ENSP00000370196.2:p.Phe1549Leu
ENST00000418590.3:c.247C>G
ENST00000470434.1:n.788C>G
NM_002972.3:c.4647C>G	NP_002963.2:p.Phe1549Leu
XM_005261931.1:c.4650C>G	XP_005261988.1:p.Phe1550Leu
XM_005261935.1:c.4569C>G	XP_005261992.1:p.Phe1523Leu
XM_011530707.1:c.4749C>G	XP_011529009.1:p.Phe1583Leu
XM_011530708.1:c.4701C>G	XP_011529010.1:p.Phe1567Leu
XM_011530709.1:c.4677C>G	XP_011529011.1:p.Phe1559Leu
XM_011530710.1:c.4674C>G	XP_011529012.1:p.Phe1558Leu
XM_011530711.1:c.4674C>G	XP_011529013.1:p.Phe1558Leu
XR_938344.1:n.4767C>G
NM_001365819.1:c.4572C>G	NP_001352748.1:p.Phe1524Leu
XM_005261935.2:c.4569C>G	XP_005261992.1:p.Phe1523Leu
XM_011530709.2:c.4677C>G	XP_011529011.1:p.Phe1559Leu
XM_011530710.2:c.4674C>G	XP_011529012.1:p.Phe1558Leu
XM_017028905.2:c.4599C>G	XP_016884394.1:p.Phe1533Leu
NM_002972.4:c.4647C>G MANE Select	NP_002963.2:p.Phe1549Leu