Canonical Allele Identifier: CA412193604

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893352C>A (hg19) ; chr22:g.50454923C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454923C>A , CM000684.2:g.50454923C>A	GRCh38
NC_000022.10:g.50893352C>A , CM000684.1:g.50893352C>A	GRCh37
NC_000022.9:g.49240218C>A	NCBI36
NG_041810.1:g.25149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4625G>T	ENSP00000252027.8:p.Gly1542Val
ENST00000418590.4:c.335G>T	ENSP00000401538.2:p.Gly112Val
ENST00000470434.2:n.1106G>T
ENST00000684986.1:c.4706G>T	ENSP00000509117.1:p.Gly1569Val
ENST00000685180.1:n.2488+5611G>T
ENST00000685390.1:n.2671G>T
ENST00000685411.1:n.453G>T
ENST00000685592.1:c.937G>T
ENST00000685809.1:c.4616G>T	ENSP00000508863.1:p.Gly1539Val
ENST00000686029.1:c.781G>T
ENST00000686191.1:n.3903G>T
ENST00000686222.1:c.*4125G>T	ENSP00000508737.1:n.*4125G>T
ENST00000686321.1:c.799G>T
ENST00000686427.1:c.*1638G>T	ENSP00000510379.1:n.*1638G>T
ENST00000686758.1:n.2517G>T
ENST00000686801.1:c.4691G>T	ENSP00000509915.1:p.Gly1564Val
ENST00000686826.1:n.1022G>T
ENST00000687016.1:c.4604G>T	ENSP00000509074.1:p.Gly1535Val
ENST00000687704.1:c.*2428G>T	ENSP00000510454.1:n.*2428G>T
ENST00000688066.1:c.4703G>T	ENSP00000510782.1:p.Gly1568Val
ENST00000688124.1:c.*3621G>T	ENSP00000510645.1:n.*3621G>T
ENST00000688848.1:c.*4047G>T	ENSP00000509419.1:n.*4047G>T
ENST00000688985.1:c.1704G>T	ENSP00000510477.1:n.1704G>T
ENST00000689129.1:c.4628G>T	ENSP00000510414.1:p.Gly1543Val
ENST00000689177.1:n.5975G>T
ENST00000689849.1:c.799G>T
ENST00000689981.1:c.4703G>T	ENSP00000509035.1:p.Gly1568Val
ENST00000690369.1:n.4721G>T
ENST00000690590.1:n.1750G>T
ENST00000690990.1:c.4697G>T	ENSP00000510461.1:p.Gly1566Val
ENST00000691233.1:c.4622G>T	ENSP00000509215.1:p.Gly1541Val
ENST00000691306.1:c.784G>T
ENST00000691345.1:n.2302+1293G>T
ENST00000691792.1:c.4691G>T	ENSP00000509911.1:p.Gly1564Val
ENST00000691959.1:n.5422G>T
ENST00000692844.1:n.1787G>T
ENST00000692946.1:c.799G>T
ENST00000693052.1:c.4721G>T	ENSP00000509558.1:p.Gly1574Val
ENST00000693289.1:n.1862G>T
ENST00000693440.1:c.4700G>T	ENSP00000509462.1:p.Gly1567Val
ENST00000693499.1:n.5699G>T
ENST00000693591.1:n.3511G>T
ENST00000380817.8:c.4703G>T MANE Select	ENSP00000370196.2:p.Gly1568Val
ENST00000348911.10:c.4628G>T	ENSP00000252027.7:p.Gly1543Val
ENST00000380817.7:c.4703G>T	ENSP00000370196.2:p.Gly1568Val
ENST00000418590.3:c.303G>T
ENST00000470434.1:n.844G>T
NM_002972.3:c.4703G>T	NP_002963.2:p.Gly1568Val
XM_005261931.1:c.4706G>T	XP_005261988.1:p.Gly1569Val
XM_005261935.1:c.4625G>T	XP_005261992.1:p.Gly1542Val
XM_011530707.1:c.4805G>T	XP_011529009.1:p.Gly1602Val
XM_011530708.1:c.4757G>T	XP_011529010.1:p.Gly1586Val
XM_011530709.1:c.4733G>T	XP_011529011.1:p.Gly1578Val
XM_011530710.1:c.4730G>T	XP_011529012.1:p.Gly1577Val
XM_011530711.1:c.4730G>T	XP_011529013.1:p.Gly1577Val
XR_938344.1:n.4823G>T
NM_001365819.1:c.4628G>T	NP_001352748.1:p.Gly1543Val
XM_005261935.2:c.4625G>T	XP_005261992.1:p.Gly1542Val
XM_011530709.2:c.4733G>T	XP_011529011.1:p.Gly1578Val
XM_011530710.2:c.4730G>T	XP_011529012.1:p.Gly1577Val
XM_017028905.2:c.4655G>T	XP_016884394.1:p.Gly1552Val
NM_002972.4:c.4703G>T MANE Select	NP_002963.2:p.Gly1568Val