Canonical Allele Identifier: CA412195413

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893561T>A (hg19) ; chr22:g.50455132T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455132T>A , CM000684.2:g.50455132T>A	GRCh38
NC_000022.10:g.50893561T>A , CM000684.1:g.50893561T>A	GRCh37
NC_000022.9:g.49240427T>A	NCBI36
NG_041810.1:g.24940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4487A>T	ENSP00000252027.8:p.Gln1496Leu
ENST00000418590.4:c.197A>T	ENSP00000401538.2:p.Gln66Leu
ENST00000470434.2:n.968A>T
ENST00000684986.1:c.4568A>T	ENSP00000509117.1:p.Gln1523Leu
ENST00000685180.1:n.2488+5402A>T
ENST00000685390.1:n.2533A>T
ENST00000685411.1:n.315A>T
ENST00000685592.1:c.799A>T
ENST00000685809.1:c.4478A>T	ENSP00000508863.1:p.Gln1493Leu
ENST00000686029.1:c.643A>T
ENST00000686191.1:n.3765A>T
ENST00000686222.1:c.*3987A>T	ENSP00000508737.1:n.*3987A>T
ENST00000686321.1:c.661A>T
ENST00000686427.1:c.*1500A>T	ENSP00000510379.1:n.*1500A>T
ENST00000686758.1:n.2308A>T
ENST00000686801.1:c.4553A>T	ENSP00000509915.1:p.Gln1518Leu
ENST00000686826.1:n.884A>T
ENST00000687016.1:c.4466A>T	ENSP00000509074.1:p.Gln1489Leu
ENST00000687704.1:c.*2290A>T	ENSP00000510454.1:n.*2290A>T
ENST00000688066.1:c.4565A>T	ENSP00000510782.1:p.Gln1522Leu
ENST00000688124.1:c.*3483A>T	ENSP00000510645.1:n.*3483A>T
ENST00000688848.1:c.*3909A>T	ENSP00000509419.1:n.*3909A>T
ENST00000688985.1:c.1566A>T	ENSP00000510477.1:n.1566A>T
ENST00000689129.1:c.4490A>T	ENSP00000510414.1:p.Gln1497Leu
ENST00000689177.1:n.5837A>T
ENST00000689849.1:c.661A>T
ENST00000689981.1:c.4565A>T	ENSP00000509035.1:p.Gln1522Leu
ENST00000690369.1:n.4583A>T
ENST00000690590.1:n.1612A>T
ENST00000690990.1:c.4559A>T	ENSP00000510461.1:p.Gln1520Leu
ENST00000691233.1:c.4484A>T	ENSP00000509215.1:p.Gln1495Leu
ENST00000691306.1:c.663A>T
ENST00000691345.1:n.2302+1084A>T
ENST00000691792.1:c.4555-2A>T	ENSP00000509911.1:n.4555-2A>T
ENST00000691959.1:n.5284A>T
ENST00000692844.1:n.1649A>T
ENST00000692946.1:c.661A>T
ENST00000693052.1:c.4583A>T	ENSP00000509558.1:p.Gln1528Leu
ENST00000693289.1:n.1724A>T
ENST00000693440.1:c.4562A>T	ENSP00000509462.1:p.Gln1521Leu
ENST00000693499.1:n.5490A>T
ENST00000693591.1:n.3302A>T
ENST00000380817.8:c.4565A>T MANE Select	ENSP00000370196.2:p.Gln1522Leu
ENST00000348911.10:c.4490A>T	ENSP00000252027.7:p.Gln1497Leu
ENST00000380817.7:c.4565A>T	ENSP00000370196.2:p.Gln1522Leu
ENST00000418590.3:c.165A>T
ENST00000470434.1:n.706A>T
NM_002972.3:c.4565A>T	NP_002963.2:p.Gln1522Leu
XM_005261931.1:c.4568A>T	XP_005261988.1:p.Gln1523Leu
XM_005261935.1:c.4487A>T	XP_005261992.1:p.Gln1496Leu
XM_011530707.1:c.4667A>T	XP_011529009.1:p.Gln1556Leu
XM_011530708.1:c.4619A>T	XP_011529010.1:p.Gln1540Leu
XM_011530709.1:c.4595A>T	XP_011529011.1:p.Gln1532Leu
XM_011530710.1:c.4592A>T	XP_011529012.1:p.Gln1531Leu
XM_011530711.1:c.4592A>T	XP_011529013.1:p.Gln1531Leu
XR_938344.1:n.4685A>T
NM_001365819.1:c.4490A>T	NP_001352748.1:p.Gln1497Leu
XM_005261935.2:c.4487A>T	XP_005261992.1:p.Gln1496Leu
XM_011530709.2:c.4595A>T	XP_011529011.1:p.Gln1532Leu
XM_011530710.2:c.4592A>T	XP_011529012.1:p.Gln1531Leu
XM_017028905.2:c.4517A>T	XP_016884394.1:p.Gln1506Leu
NM_002972.4:c.4565A>T MANE Select	NP_002963.2:p.Gln1522Leu