Canonical Allele Identifier: CA412193249

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893310T>A (hg19) ; chr22:g.50454881T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454881T>A , CM000684.2:g.50454881T>A	GRCh38
NC_000022.10:g.50893310T>A , CM000684.1:g.50893310T>A	GRCh37
NC_000022.9:g.49240176T>A	NCBI36
NG_041810.1:g.25191A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4667A>T	ENSP00000252027.8:p.Tyr1556Phe
ENST00000418590.4:c.377A>T	ENSP00000401538.2:p.Tyr126Phe
ENST00000470434.2:n.1148A>T
ENST00000684986.1:c.4748A>T	ENSP00000509117.1:p.Tyr1583Phe
ENST00000685180.1:n.2488+5653A>T
ENST00000685390.1:n.2713A>T
ENST00000685411.1:n.495A>T
ENST00000685592.1:c.979A>T
ENST00000685809.1:c.4658A>T	ENSP00000508863.1:p.Tyr1553Phe
ENST00000686029.1:c.823A>T
ENST00000686191.1:n.3945A>T
ENST00000686222.1:c.*4167A>T	ENSP00000508737.1:n.*4167A>T
ENST00000686321.1:c.841A>T
ENST00000686427.1:c.*1680A>T	ENSP00000510379.1:n.*1680A>T
ENST00000686758.1:n.2559A>T
ENST00000686801.1:c.4733A>T	ENSP00000509915.1:p.Tyr1578Phe
ENST00000686826.1:n.1064A>T
ENST00000687016.1:c.4646A>T	ENSP00000509074.1:p.Tyr1549Phe
ENST00000687704.1:c.*2470A>T	ENSP00000510454.1:n.*2470A>T
ENST00000688066.1:c.4745A>T	ENSP00000510782.1:p.Tyr1582Phe
ENST00000688124.1:c.*3663A>T	ENSP00000510645.1:n.*3663A>T
ENST00000688848.1:c.*4089A>T	ENSP00000509419.1:n.*4089A>T
ENST00000688985.1:c.1746A>T	ENSP00000510477.1:n.1746A>T
ENST00000689129.1:c.4670A>T	ENSP00000510414.1:p.Tyr1557Phe
ENST00000689177.1:n.6017A>T
ENST00000689849.1:c.841A>T
ENST00000689981.1:c.4745A>T	ENSP00000509035.1:p.Tyr1582Phe
ENST00000690369.1:n.4763A>T
ENST00000690590.1:n.1792A>T
ENST00000690990.1:c.4739A>T	ENSP00000510461.1:p.Tyr1580Phe
ENST00000691233.1:c.4664A>T	ENSP00000509215.1:p.Tyr1555Phe
ENST00000691306.1:c.826A>T
ENST00000691345.1:n.2302+1335A>T
ENST00000691792.1:c.4733A>T	ENSP00000509911.1:p.Tyr1578Phe
ENST00000691959.1:n.5464A>T
ENST00000692844.1:n.1829A>T
ENST00000692946.1:c.841A>T
ENST00000693052.1:c.4763A>T	ENSP00000509558.1:p.Tyr1588Phe
ENST00000693289.1:n.1904A>T
ENST00000693440.1:c.4742A>T	ENSP00000509462.1:p.Tyr1581Phe
ENST00000693499.1:n.5741A>T
ENST00000693591.1:n.3553A>T
ENST00000380817.8:c.4745A>T MANE Select	ENSP00000370196.2:p.Tyr1582Phe
ENST00000348911.10:c.4670A>T	ENSP00000252027.7:p.Tyr1557Phe
ENST00000380817.7:c.4745A>T	ENSP00000370196.2:p.Tyr1582Phe
ENST00000418590.3:c.345A>T
ENST00000470434.1:n.886A>T
NM_002972.3:c.4745A>T	NP_002963.2:p.Tyr1582Phe
XM_005261931.1:c.4748A>T	XP_005261988.1:p.Tyr1583Phe
XM_005261935.1:c.4667A>T	XP_005261992.1:p.Tyr1556Phe
XM_011530707.1:c.4847A>T	XP_011529009.1:p.Tyr1616Phe
XM_011530708.1:c.4799A>T	XP_011529010.1:p.Tyr1600Phe
XM_011530709.1:c.4775A>T	XP_011529011.1:p.Tyr1592Phe
XM_011530710.1:c.4772A>T	XP_011529012.1:p.Tyr1591Phe
XM_011530711.1:c.4772A>T	XP_011529013.1:p.Tyr1591Phe
XR_938344.1:n.4865A>T
NM_001365819.1:c.4670A>T	NP_001352748.1:p.Tyr1557Phe
XM_005261935.2:c.4667A>T	XP_005261992.1:p.Tyr1556Phe
XM_011530709.2:c.4775A>T	XP_011529011.1:p.Tyr1592Phe
XM_011530710.2:c.4772A>T	XP_011529012.1:p.Tyr1591Phe
XM_017028905.2:c.4697A>T	XP_016884394.1:p.Tyr1566Phe
NM_002972.4:c.4745A>T MANE Select	NP_002963.2:p.Tyr1582Phe