Canonical Allele Identifier: CA412194365

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893498G>A (hg19) ; chr22:g.50455069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455069G>A , CM000684.2:g.50455069G>A	GRCh38
NC_000022.10:g.50893498G>A , CM000684.1:g.50893498G>A	GRCh37
NC_000022.9:g.49240364G>A	NCBI36
NG_041810.1:g.25003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4550C>T	ENSP00000252027.8:p.Ser1517Phe
ENST00000418590.4:c.260C>T	ENSP00000401538.2:p.Ser87Phe
ENST00000470434.2:n.1031C>T
ENST00000684986.1:c.4631C>T	ENSP00000509117.1:p.Ser1544Phe
ENST00000685180.1:n.2488+5465C>T
ENST00000685390.1:n.2596C>T
ENST00000685411.1:n.378C>T
ENST00000685592.1:c.862C>T
ENST00000685809.1:c.4541C>T	ENSP00000508863.1:p.Ser1514Phe
ENST00000686029.1:c.706C>T
ENST00000686191.1:n.3828C>T
ENST00000686222.1:c.*4050C>T	ENSP00000508737.1:n.*4050C>T
ENST00000686321.1:c.724C>T
ENST00000686427.1:c.*1563C>T	ENSP00000510379.1:n.*1563C>T
ENST00000686758.1:n.2371C>T
ENST00000686801.1:c.4616C>T	ENSP00000509915.1:p.Ser1539Phe
ENST00000686826.1:n.947C>T
ENST00000687016.1:c.4529C>T	ENSP00000509074.1:p.Ser1510Phe
ENST00000687704.1:c.*2353C>T	ENSP00000510454.1:n.*2353C>T
ENST00000688066.1:c.4628C>T	ENSP00000510782.1:p.Ser1543Phe
ENST00000688124.1:c.*3546C>T	ENSP00000510645.1:n.*3546C>T
ENST00000688848.1:c.*3972C>T	ENSP00000509419.1:n.*3972C>T
ENST00000688985.1:c.1629C>T	ENSP00000510477.1:n.1629C>T
ENST00000689129.1:c.4553C>T	ENSP00000510414.1:p.Ser1518Phe
ENST00000689177.1:n.5900C>T
ENST00000689849.1:c.724C>T
ENST00000689981.1:c.4628C>T	ENSP00000509035.1:p.Ser1543Phe
ENST00000690369.1:n.4646C>T
ENST00000690590.1:n.1675C>T
ENST00000690990.1:c.4622C>T	ENSP00000510461.1:p.Ser1541Phe
ENST00000691233.1:c.4547C>T	ENSP00000509215.1:p.Ser1516Phe
ENST00000691306.1:c.726C>T
ENST00000691345.1:n.2302+1147C>T
ENST00000691792.1:c.4616C>T	ENSP00000509911.1:p.Ser1539Phe
ENST00000691959.1:n.5347C>T
ENST00000692844.1:n.1712C>T
ENST00000692946.1:c.724C>T
ENST00000693052.1:c.4646C>T	ENSP00000509558.1:p.Ser1549Phe
ENST00000693289.1:n.1787C>T
ENST00000693440.1:c.4625C>T	ENSP00000509462.1:p.Ser1542Phe
ENST00000693499.1:n.5553C>T
ENST00000693591.1:n.3365C>T
ENST00000380817.8:c.4628C>T MANE Select	ENSP00000370196.2:p.Ser1543Phe
ENST00000348911.10:c.4553C>T	ENSP00000252027.7:p.Ser1518Phe
ENST00000380817.7:c.4628C>T	ENSP00000370196.2:p.Ser1543Phe
ENST00000418590.3:c.228C>T
ENST00000470434.1:n.769C>T
NM_002972.3:c.4628C>T	NP_002963.2:p.Ser1543Phe
XM_005261931.1:c.4631C>T	XP_005261988.1:p.Ser1544Phe
XM_005261935.1:c.4550C>T	XP_005261992.1:p.Ser1517Phe
XM_011530707.1:c.4730C>T	XP_011529009.1:p.Ser1577Phe
XM_011530708.1:c.4682C>T	XP_011529010.1:p.Ser1561Phe
XM_011530709.1:c.4658C>T	XP_011529011.1:p.Ser1553Phe
XM_011530710.1:c.4655C>T	XP_011529012.1:p.Ser1552Phe
XM_011530711.1:c.4655C>T	XP_011529013.1:p.Ser1552Phe
XR_938344.1:n.4748C>T
NM_001365819.1:c.4553C>T	NP_001352748.1:p.Ser1518Phe
XM_005261935.2:c.4550C>T	XP_005261992.1:p.Ser1517Phe
XM_011530709.2:c.4658C>T	XP_011529011.1:p.Ser1553Phe
XM_011530710.2:c.4655C>T	XP_011529012.1:p.Ser1552Phe
XM_017028905.2:c.4580C>T	XP_016884394.1:p.Ser1527Phe
NM_002972.4:c.4628C>T MANE Select	NP_002963.2:p.Ser1543Phe