Canonical Allele Identifier: CA412195332

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893540A>C (hg19) ; chr22:g.50455111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455111A>C , CM000684.2:g.50455111A>C	GRCh38
NC_000022.10:g.50893540A>C , CM000684.1:g.50893540A>C	GRCh37
NC_000022.9:g.49240406A>C	NCBI36
NG_041810.1:g.24961T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4508T>G	ENSP00000252027.8:p.Phe1503Cys
ENST00000418590.4:c.218T>G	ENSP00000401538.2:p.Phe73Cys
ENST00000470434.2:n.989T>G
ENST00000684986.1:c.4589T>G	ENSP00000509117.1:p.Phe1530Cys
ENST00000685180.1:n.2488+5423T>G
ENST00000685390.1:n.2554T>G
ENST00000685411.1:n.336T>G
ENST00000685592.1:c.820T>G
ENST00000685809.1:c.4499T>G	ENSP00000508863.1:p.Phe1500Cys
ENST00000686029.1:c.664T>G
ENST00000686191.1:n.3786T>G
ENST00000686222.1:c.*4008T>G	ENSP00000508737.1:n.*4008T>G
ENST00000686321.1:c.682T>G
ENST00000686427.1:c.*1521T>G	ENSP00000510379.1:n.*1521T>G
ENST00000686758.1:n.2329T>G
ENST00000686801.1:c.4574T>G	ENSP00000509915.1:p.Phe1525Cys
ENST00000686826.1:n.905T>G
ENST00000687016.1:c.4487T>G	ENSP00000509074.1:p.Phe1496Cys
ENST00000687704.1:c.*2311T>G	ENSP00000510454.1:n.*2311T>G
ENST00000688066.1:c.4586T>G	ENSP00000510782.1:p.Phe1529Cys
ENST00000688124.1:c.*3504T>G	ENSP00000510645.1:n.*3504T>G
ENST00000688848.1:c.*3930T>G	ENSP00000509419.1:n.*3930T>G
ENST00000688985.1:c.1587T>G	ENSP00000510477.1:n.1587T>G
ENST00000689129.1:c.4511T>G	ENSP00000510414.1:p.Phe1504Cys
ENST00000689177.1:n.5858T>G
ENST00000689849.1:c.682T>G
ENST00000689981.1:c.4586T>G	ENSP00000509035.1:p.Phe1529Cys
ENST00000690369.1:n.4604T>G
ENST00000690590.1:n.1633T>G
ENST00000690990.1:c.4580T>G	ENSP00000510461.1:p.Phe1527Cys
ENST00000691233.1:c.4505T>G	ENSP00000509215.1:p.Phe1502Cys
ENST00000691306.1:c.684T>G
ENST00000691345.1:n.2302+1105T>G
ENST00000691792.1:c.4574T>G	ENSP00000509911.1:p.Phe1525Cys
ENST00000691959.1:n.5305T>G
ENST00000692844.1:n.1670T>G
ENST00000692946.1:c.682T>G
ENST00000693052.1:c.4604T>G	ENSP00000509558.1:p.Phe1535Cys
ENST00000693289.1:n.1745T>G
ENST00000693440.1:c.4583T>G	ENSP00000509462.1:p.Phe1528Cys
ENST00000693499.1:n.5511T>G
ENST00000693591.1:n.3323T>G
ENST00000380817.8:c.4586T>G MANE Select	ENSP00000370196.2:p.Phe1529Cys
ENST00000348911.10:c.4511T>G	ENSP00000252027.7:p.Phe1504Cys
ENST00000380817.7:c.4586T>G	ENSP00000370196.2:p.Phe1529Cys
ENST00000418590.3:c.186T>G
ENST00000470434.1:n.727T>G
NM_002972.3:c.4586T>G	NP_002963.2:p.Phe1529Cys
XM_005261931.1:c.4589T>G	XP_005261988.1:p.Phe1530Cys
XM_005261935.1:c.4508T>G	XP_005261992.1:p.Phe1503Cys
XM_011530707.1:c.4688T>G	XP_011529009.1:p.Phe1563Cys
XM_011530708.1:c.4640T>G	XP_011529010.1:p.Phe1547Cys
XM_011530709.1:c.4616T>G	XP_011529011.1:p.Phe1539Cys
XM_011530710.1:c.4613T>G	XP_011529012.1:p.Phe1538Cys
XM_011530711.1:c.4613T>G	XP_011529013.1:p.Phe1538Cys
XR_938344.1:n.4706T>G
NM_001365819.1:c.4511T>G	NP_001352748.1:p.Phe1504Cys
XM_005261935.2:c.4508T>G	XP_005261992.1:p.Phe1503Cys
XM_011530709.2:c.4616T>G	XP_011529011.1:p.Phe1539Cys
XM_011530710.2:c.4613T>G	XP_011529012.1:p.Phe1538Cys
XM_017028905.2:c.4538T>G	XP_016884394.1:p.Phe1513Cys
NM_002972.4:c.4586T>G MANE Select	NP_002963.2:p.Phe1529Cys