Canonical Allele Identifier: CA412195330

Gene: SBF1

Linked Data

• dbSNP Id: rs2067196088
• MyVariant Identifiers: chr22:g.50893539G>C (hg19) ; chr22:g.50455110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455110G>C , CM000684.2:g.50455110G>C	GRCh38
NC_000022.10:g.50893539G>C , CM000684.1:g.50893539G>C	GRCh37
NC_000022.9:g.49240405G>C	NCBI36
NG_041810.1:g.24962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4509C>G	ENSP00000252027.8:p.Phe1503Leu
ENST00000418590.4:c.219C>G	ENSP00000401538.2:p.Phe73Leu
ENST00000470434.2:n.990C>G
ENST00000684986.1:c.4590C>G	ENSP00000509117.1:p.Phe1530Leu
ENST00000685180.1:n.2488+5424C>G
ENST00000685390.1:n.2555C>G
ENST00000685411.1:n.337C>G
ENST00000685592.1:c.821C>G
ENST00000685809.1:c.4500C>G	ENSP00000508863.1:p.Phe1500Leu
ENST00000686029.1:c.665C>G
ENST00000686191.1:n.3787C>G
ENST00000686222.1:c.*4009C>G	ENSP00000508737.1:n.*4009C>G
ENST00000686321.1:c.683C>G
ENST00000686427.1:c.*1522C>G	ENSP00000510379.1:n.*1522C>G
ENST00000686758.1:n.2330C>G
ENST00000686801.1:c.4575C>G	ENSP00000509915.1:p.Phe1525Leu
ENST00000686826.1:n.906C>G
ENST00000687016.1:c.4488C>G	ENSP00000509074.1:p.Phe1496Leu
ENST00000687704.1:c.*2312C>G	ENSP00000510454.1:n.*2312C>G
ENST00000688066.1:c.4587C>G	ENSP00000510782.1:p.Phe1529Leu
ENST00000688124.1:c.*3505C>G	ENSP00000510645.1:n.*3505C>G
ENST00000688848.1:c.*3931C>G	ENSP00000509419.1:n.*3931C>G
ENST00000688985.1:c.1588C>G	ENSP00000510477.1:n.1588C>G
ENST00000689129.1:c.4512C>G	ENSP00000510414.1:p.Phe1504Leu
ENST00000689177.1:n.5859C>G
ENST00000689849.1:c.683C>G
ENST00000689981.1:c.4587C>G	ENSP00000509035.1:p.Phe1529Leu
ENST00000690369.1:n.4605C>G
ENST00000690590.1:n.1634C>G
ENST00000690990.1:c.4581C>G	ENSP00000510461.1:p.Phe1527Leu
ENST00000691233.1:c.4506C>G	ENSP00000509215.1:p.Phe1502Leu
ENST00000691306.1:c.685C>G
ENST00000691345.1:n.2302+1106C>G
ENST00000691792.1:c.4575C>G	ENSP00000509911.1:p.Phe1525Leu
ENST00000691959.1:n.5306C>G
ENST00000692844.1:n.1671C>G
ENST00000692946.1:c.683C>G
ENST00000693052.1:c.4605C>G	ENSP00000509558.1:p.Phe1535Leu
ENST00000693289.1:n.1746C>G
ENST00000693440.1:c.4584C>G	ENSP00000509462.1:p.Phe1528Leu
ENST00000693499.1:n.5512C>G
ENST00000693591.1:n.3324C>G
ENST00000380817.8:c.4587C>G MANE Select	ENSP00000370196.2:p.Phe1529Leu
ENST00000348911.10:c.4512C>G	ENSP00000252027.7:p.Phe1504Leu
ENST00000380817.7:c.4587C>G	ENSP00000370196.2:p.Phe1529Leu
ENST00000418590.3:c.187C>G
ENST00000470434.1:n.728C>G
NM_002972.3:c.4587C>G	NP_002963.2:p.Phe1529Leu
XM_005261931.1:c.4590C>G	XP_005261988.1:p.Phe1530Leu
XM_005261935.1:c.4509C>G	XP_005261992.1:p.Phe1503Leu
XM_011530707.1:c.4689C>G	XP_011529009.1:p.Phe1563Leu
XM_011530708.1:c.4641C>G	XP_011529010.1:p.Phe1547Leu
XM_011530709.1:c.4617C>G	XP_011529011.1:p.Phe1539Leu
XM_011530710.1:c.4614C>G	XP_011529012.1:p.Phe1538Leu
XM_011530711.1:c.4614C>G	XP_011529013.1:p.Phe1538Leu
XR_938344.1:n.4707C>G
NM_001365819.1:c.4512C>G	NP_001352748.1:p.Phe1504Leu
XM_005261935.2:c.4509C>G	XP_005261992.1:p.Phe1503Leu
XM_011530709.2:c.4617C>G	XP_011529011.1:p.Phe1539Leu
XM_011530710.2:c.4614C>G	XP_011529012.1:p.Phe1538Leu
XM_017028905.2:c.4539C>G	XP_016884394.1:p.Phe1513Leu
NM_002972.4:c.4587C>G MANE Select	NP_002963.2:p.Phe1529Leu