Canonical Allele Identifier: CA412195304

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455102-A-T
• MyVariant Identifiers: chr22:g.50893531A>T (hg19) ; chr22:g.50455102A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455102A>T , CM000684.2:g.50455102A>T	GRCh38
NC_000022.10:g.50893531A>T , CM000684.1:g.50893531A>T	GRCh37
NC_000022.9:g.49240397A>T	NCBI36
NG_041810.1:g.24970T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4517T>A	ENSP00000252027.8:p.Phe1506Tyr
ENST00000418590.4:c.227T>A	ENSP00000401538.2:p.Phe76Tyr
ENST00000470434.2:n.998T>A
ENST00000684986.1:c.4598T>A	ENSP00000509117.1:p.Phe1533Tyr
ENST00000685180.1:n.2488+5432T>A
ENST00000685390.1:n.2563T>A
ENST00000685411.1:n.345T>A
ENST00000685592.1:c.829T>A
ENST00000685809.1:c.4508T>A	ENSP00000508863.1:p.Phe1503Tyr
ENST00000686029.1:c.673T>A
ENST00000686191.1:n.3795T>A
ENST00000686222.1:c.*4017T>A	ENSP00000508737.1:n.*4017T>A
ENST00000686321.1:c.691T>A
ENST00000686427.1:c.*1530T>A	ENSP00000510379.1:n.*1530T>A
ENST00000686758.1:n.2338T>A
ENST00000686801.1:c.4583T>A	ENSP00000509915.1:p.Phe1528Tyr
ENST00000686826.1:n.914T>A
ENST00000687016.1:c.4496T>A	ENSP00000509074.1:p.Phe1499Tyr
ENST00000687704.1:c.*2320T>A	ENSP00000510454.1:n.*2320T>A
ENST00000688066.1:c.4595T>A	ENSP00000510782.1:p.Phe1532Tyr
ENST00000688124.1:c.*3513T>A	ENSP00000510645.1:n.*3513T>A
ENST00000688848.1:c.*3939T>A	ENSP00000509419.1:n.*3939T>A
ENST00000688985.1:c.1596T>A	ENSP00000510477.1:n.1596T>A
ENST00000689129.1:c.4520T>A	ENSP00000510414.1:p.Phe1507Tyr
ENST00000689177.1:n.5867T>A
ENST00000689849.1:c.691T>A
ENST00000689981.1:c.4595T>A	ENSP00000509035.1:p.Phe1532Tyr
ENST00000690369.1:n.4613T>A
ENST00000690590.1:n.1642T>A
ENST00000690990.1:c.4589T>A	ENSP00000510461.1:p.Phe1530Tyr
ENST00000691233.1:c.4514T>A	ENSP00000509215.1:p.Phe1505Tyr
ENST00000691306.1:c.693T>A
ENST00000691345.1:n.2302+1114T>A
ENST00000691792.1:c.4583T>A	ENSP00000509911.1:p.Phe1528Tyr
ENST00000691959.1:n.5314T>A
ENST00000692844.1:n.1679T>A
ENST00000692946.1:c.691T>A
ENST00000693052.1:c.4613T>A	ENSP00000509558.1:p.Phe1538Tyr
ENST00000693289.1:n.1754T>A
ENST00000693440.1:c.4592T>A	ENSP00000509462.1:p.Phe1531Tyr
ENST00000693499.1:n.5520T>A
ENST00000693591.1:n.3332T>A
ENST00000380817.8:c.4595T>A MANE Select	ENSP00000370196.2:p.Phe1532Tyr
ENST00000348911.10:c.4520T>A	ENSP00000252027.7:p.Phe1507Tyr
ENST00000380817.7:c.4595T>A	ENSP00000370196.2:p.Phe1532Tyr
ENST00000418590.3:c.195T>A
ENST00000470434.1:n.736T>A
NM_002972.3:c.4595T>A	NP_002963.2:p.Phe1532Tyr
XM_005261931.1:c.4598T>A	XP_005261988.1:p.Phe1533Tyr
XM_005261935.1:c.4517T>A	XP_005261992.1:p.Phe1506Tyr
XM_011530707.1:c.4697T>A	XP_011529009.1:p.Phe1566Tyr
XM_011530708.1:c.4649T>A	XP_011529010.1:p.Phe1550Tyr
XM_011530709.1:c.4625T>A	XP_011529011.1:p.Phe1542Tyr
XM_011530710.1:c.4622T>A	XP_011529012.1:p.Phe1541Tyr
XM_011530711.1:c.4622T>A	XP_011529013.1:p.Phe1541Tyr
XR_938344.1:n.4715T>A
NM_001365819.1:c.4520T>A	NP_001352748.1:p.Phe1507Tyr
XM_005261935.2:c.4517T>A	XP_005261992.1:p.Phe1506Tyr
XM_011530709.2:c.4625T>A	XP_011529011.1:p.Phe1542Tyr
XM_011530710.2:c.4622T>A	XP_011529012.1:p.Phe1541Tyr
XM_017028905.2:c.4547T>A	XP_016884394.1:p.Phe1516Tyr
NM_002972.4:c.4595T>A MANE Select	NP_002963.2:p.Phe1532Tyr