Canonical Allele Identifier: CA325528099

Gene: SBF1

Linked Data

• dbSNP Id: rs997328600
• gnomAD v4: 22-50455118-A-T
• MyVariant Identifiers: chr22:g.50893547A>T (hg19) ; chr22:g.50455118A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455118A>T , CM000684.2:g.50455118A>T	GRCh38
NC_000022.10:g.50893547A>T , CM000684.1:g.50893547A>T	GRCh37
NC_000022.9:g.49240413A>T	NCBI36
NG_041810.1:g.24954T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4501T>A	ENSP00000252027.8:p.Phe1501Ile
ENST00000418590.4:c.211T>A	ENSP00000401538.2:p.Phe71Ile
ENST00000470434.2:n.982T>A
ENST00000684986.1:c.4582T>A	ENSP00000509117.1:p.Phe1528Ile
ENST00000685180.1:n.2488+5416T>A
ENST00000685390.1:n.2547T>A
ENST00000685411.1:n.329T>A
ENST00000685592.1:c.813T>A
ENST00000685809.1:c.4492T>A	ENSP00000508863.1:p.Phe1498Ile
ENST00000686029.1:c.657T>A
ENST00000686191.1:n.3779T>A
ENST00000686222.1:c.*4001T>A	ENSP00000508737.1:n.*4001T>A
ENST00000686321.1:c.675T>A
ENST00000686427.1:c.*1514T>A	ENSP00000510379.1:n.*1514T>A
ENST00000686758.1:n.2322T>A
ENST00000686801.1:c.4567T>A	ENSP00000509915.1:p.Phe1523Ile
ENST00000686826.1:n.898T>A
ENST00000687016.1:c.4480T>A	ENSP00000509074.1:p.Phe1494Ile
ENST00000687704.1:c.*2304T>A	ENSP00000510454.1:n.*2304T>A
ENST00000688066.1:c.4579T>A	ENSP00000510782.1:p.Phe1527Ile
ENST00000688124.1:c.*3497T>A	ENSP00000510645.1:n.*3497T>A
ENST00000688848.1:c.*3923T>A	ENSP00000509419.1:n.*3923T>A
ENST00000688985.1:c.1580T>A	ENSP00000510477.1:n.1580T>A
ENST00000689129.1:c.4504T>A	ENSP00000510414.1:p.Phe1502Ile
ENST00000689177.1:n.5851T>A
ENST00000689849.1:c.675T>A
ENST00000689981.1:c.4579T>A	ENSP00000509035.1:p.Phe1527Ile
ENST00000690369.1:n.4597T>A
ENST00000690590.1:n.1626T>A
ENST00000690990.1:c.4573T>A	ENSP00000510461.1:p.Phe1525Ile
ENST00000691233.1:c.4498T>A	ENSP00000509215.1:p.Phe1500Ile
ENST00000691306.1:c.677T>A
ENST00000691345.1:n.2302+1098T>A
ENST00000691792.1:c.4567T>A	ENSP00000509911.1:p.Phe1523Ile
ENST00000691959.1:n.5298T>A
ENST00000692844.1:n.1663T>A
ENST00000692946.1:c.675T>A
ENST00000693052.1:c.4597T>A	ENSP00000509558.1:p.Phe1533Ile
ENST00000693289.1:n.1738T>A
ENST00000693440.1:c.4576T>A	ENSP00000509462.1:p.Phe1526Ile
ENST00000693499.1:n.5504T>A
ENST00000693591.1:n.3316T>A
ENST00000380817.8:c.4579T>A MANE Select	ENSP00000370196.2:p.Phe1527Ile
ENST00000348911.10:c.4504T>A	ENSP00000252027.7:p.Phe1502Ile
ENST00000380817.7:c.4579T>A	ENSP00000370196.2:p.Phe1527Ile
ENST00000418590.3:c.179T>A
ENST00000470434.1:n.720T>A
NM_002972.3:c.4579T>A	NP_002963.2:p.Phe1527Ile
XM_005261931.1:c.4582T>A	XP_005261988.1:p.Phe1528Ile
XM_005261935.1:c.4501T>A	XP_005261992.1:p.Phe1501Ile
XM_011530707.1:c.4681T>A	XP_011529009.1:p.Phe1561Ile
XM_011530708.1:c.4633T>A	XP_011529010.1:p.Phe1545Ile
XM_011530709.1:c.4609T>A	XP_011529011.1:p.Phe1537Ile
XM_011530710.1:c.4606T>A	XP_011529012.1:p.Phe1536Ile
XM_011530711.1:c.4606T>A	XP_011529013.1:p.Phe1536Ile
XR_938344.1:n.4699T>A
NM_001365819.1:c.4504T>A	NP_001352748.1:p.Phe1502Ile
XM_005261935.2:c.4501T>A	XP_005261992.1:p.Phe1501Ile
XM_011530709.2:c.4609T>A	XP_011529011.1:p.Phe1537Ile
XM_011530710.2:c.4606T>A	XP_011529012.1:p.Phe1536Ile
XM_017028905.2:c.4531T>A	XP_016884394.1:p.Phe1511Ile
NM_002972.4:c.4579T>A MANE Select	NP_002963.2:p.Phe1527Ile