Canonical Allele Identifier: CA515382844

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893494G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455065G>C , CM000684.2:g.50455065G>C	GRCh38
NC_000022.10:g.50893494G>C , CM000684.1:g.50893494G>C	GRCh37
NC_000022.9:g.49240360G>C	NCBI36
NG_041810.1:g.25007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4554C>G	ENSP00000252027.8:p.Arg1518=
ENST00000418590.4:c.264C>G	ENSP00000401538.2:p.Arg88=
ENST00000470434.2:n.1035C>G
ENST00000684986.1:c.4635C>G	ENSP00000509117.1:p.Arg1545=
ENST00000685180.1:n.2488+5469C>G
ENST00000685390.1:n.2600C>G
ENST00000685411.1:n.382C>G
ENST00000685592.1:c.866C>G
ENST00000685809.1:c.4545C>G	ENSP00000508863.1:p.Arg1515=
ENST00000686029.1:c.710C>G
ENST00000686191.1:n.3832C>G
ENST00000686222.1:c.*4054C>G	ENSP00000508737.1:n.*4054C>G
ENST00000686321.1:c.728C>G
ENST00000686427.1:c.*1567C>G	ENSP00000510379.1:n.*1567C>G
ENST00000686758.1:n.2375C>G
ENST00000686801.1:c.4620C>G	ENSP00000509915.1:p.Arg1540=
ENST00000686826.1:n.951C>G
ENST00000687016.1:c.4533C>G	ENSP00000509074.1:p.Arg1511=
ENST00000687704.1:c.*2357C>G	ENSP00000510454.1:n.*2357C>G
ENST00000688066.1:c.4632C>G	ENSP00000510782.1:p.Arg1544=
ENST00000688124.1:c.*3550C>G	ENSP00000510645.1:n.*3550C>G
ENST00000688848.1:c.*3976C>G	ENSP00000509419.1:n.*3976C>G
ENST00000688985.1:c.1633C>G	ENSP00000510477.1:n.1633C>G
ENST00000689129.1:c.4557C>G	ENSP00000510414.1:p.Arg1519=
ENST00000689177.1:n.5904C>G
ENST00000689849.1:c.728C>G
ENST00000689981.1:c.4632C>G	ENSP00000509035.1:p.Arg1544=
ENST00000690369.1:n.4650C>G
ENST00000690590.1:n.1679C>G
ENST00000690990.1:c.4626C>G	ENSP00000510461.1:p.Arg1542=
ENST00000691233.1:c.4551C>G	ENSP00000509215.1:p.Arg1517=
ENST00000691306.1:c.730C>G
ENST00000691345.1:n.2302+1151C>G
ENST00000691792.1:c.4620C>G	ENSP00000509911.1:p.Arg1540=
ENST00000691959.1:n.5351C>G
ENST00000692844.1:n.1716C>G
ENST00000692946.1:c.728C>G
ENST00000693052.1:c.4650C>G	ENSP00000509558.1:p.Arg1550=
ENST00000693289.1:n.1791C>G
ENST00000693440.1:c.4629C>G	ENSP00000509462.1:p.Arg1543=
ENST00000693499.1:n.5557C>G
ENST00000693591.1:n.3369C>G
ENST00000380817.8:c.4632C>G MANE Select	ENSP00000370196.2:p.Arg1544=
ENST00000348911.10:c.4557C>G	ENSP00000252027.7:p.Arg1519=
ENST00000380817.7:c.4632C>G	ENSP00000370196.2:p.Arg1544=
ENST00000418590.3:c.232C>G
ENST00000470434.1:n.773C>G
NM_002972.3:c.4632C>G	NP_002963.2:p.Arg1544=
XM_005261931.1:c.4635C>G	XP_005261988.1:p.Arg1545=
XM_005261935.1:c.4554C>G	XP_005261992.1:p.Arg1518=
XM_011530707.1:c.4734C>G	XP_011529009.1:p.Arg1578=
XM_011530708.1:c.4686C>G	XP_011529010.1:p.Arg1562=
XM_011530709.1:c.4662C>G	XP_011529011.1:p.Arg1554=
XM_011530710.1:c.4659C>G	XP_011529012.1:p.Arg1553=
XM_011530711.1:c.4659C>G	XP_011529013.1:p.Arg1553=
XR_938344.1:n.4752C>G
NM_001365819.1:c.4557C>G	NP_001352748.1:p.Arg1519=
XM_005261935.2:c.4554C>G	XP_005261992.1:p.Arg1518=
XM_011530709.2:c.4662C>G	XP_011529011.1:p.Arg1554=
XM_011530710.2:c.4659C>G	XP_011529012.1:p.Arg1553=
XM_017028905.2:c.4584C>G	XP_016884394.1:p.Arg1528=
NM_002972.4:c.4632C>G MANE Select	NP_002963.2:p.Arg1544=