Canonical Allele Identifier: CA412194059

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893462T>A (hg19) ; chr22:g.50455033T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455033T>A , CM000684.2:g.50455033T>A	GRCh38
NC_000022.10:g.50893462T>A , CM000684.1:g.50893462T>A	GRCh37
NC_000022.9:g.49240328T>A	NCBI36
NG_041810.1:g.25039A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4586A>T	ENSP00000252027.8:p.Tyr1529Phe
ENST00000418590.4:c.296A>T	ENSP00000401538.2:p.Tyr99Phe
ENST00000470434.2:n.1067A>T
ENST00000684986.1:c.4667A>T	ENSP00000509117.1:p.Tyr1556Phe
ENST00000685180.1:n.2488+5501A>T
ENST00000685390.1:n.2632A>T
ENST00000685411.1:n.414A>T
ENST00000685592.1:c.898A>T
ENST00000685809.1:c.4577A>T	ENSP00000508863.1:p.Tyr1526Phe
ENST00000686029.1:c.742A>T
ENST00000686191.1:n.3864A>T
ENST00000686222.1:c.*4086A>T	ENSP00000508737.1:n.*4086A>T
ENST00000686321.1:c.760A>T
ENST00000686427.1:c.*1599A>T	ENSP00000510379.1:n.*1599A>T
ENST00000686758.1:n.2407A>T
ENST00000686801.1:c.4652A>T	ENSP00000509915.1:p.Tyr1551Phe
ENST00000686826.1:n.983A>T
ENST00000687016.1:c.4565A>T	ENSP00000509074.1:p.Tyr1522Phe
ENST00000687704.1:c.*2389A>T	ENSP00000510454.1:n.*2389A>T
ENST00000688066.1:c.4664A>T	ENSP00000510782.1:p.Tyr1555Phe
ENST00000688124.1:c.*3582A>T	ENSP00000510645.1:n.*3582A>T
ENST00000688848.1:c.*4008A>T	ENSP00000509419.1:n.*4008A>T
ENST00000688985.1:c.1665A>T	ENSP00000510477.1:n.1665A>T
ENST00000689129.1:c.4589A>T	ENSP00000510414.1:p.Tyr1530Phe
ENST00000689177.1:n.5936A>T
ENST00000689849.1:c.760A>T
ENST00000689981.1:c.4664A>T	ENSP00000509035.1:p.Tyr1555Phe
ENST00000690369.1:n.4682A>T
ENST00000690590.1:n.1711A>T
ENST00000690990.1:c.4658A>T	ENSP00000510461.1:p.Tyr1553Phe
ENST00000691233.1:c.4583A>T	ENSP00000509215.1:p.Tyr1528Phe
ENST00000691306.1:c.762A>T
ENST00000691345.1:n.2302+1183A>T
ENST00000691792.1:c.4652A>T	ENSP00000509911.1:p.Tyr1551Phe
ENST00000691959.1:n.5383A>T
ENST00000692844.1:n.1748A>T
ENST00000692946.1:c.760A>T
ENST00000693052.1:c.4682A>T	ENSP00000509558.1:p.Tyr1561Phe
ENST00000693289.1:n.1823A>T
ENST00000693440.1:c.4661A>T	ENSP00000509462.1:p.Tyr1554Phe
ENST00000693499.1:n.5589A>T
ENST00000693591.1:n.3401A>T
ENST00000380817.8:c.4664A>T MANE Select	ENSP00000370196.2:p.Tyr1555Phe
ENST00000348911.10:c.4589A>T	ENSP00000252027.7:p.Tyr1530Phe
ENST00000380817.7:c.4664A>T	ENSP00000370196.2:p.Tyr1555Phe
ENST00000418590.3:c.264A>T
ENST00000470434.1:n.805A>T
NM_002972.3:c.4664A>T	NP_002963.2:p.Tyr1555Phe
XM_005261931.1:c.4667A>T	XP_005261988.1:p.Tyr1556Phe
XM_005261935.1:c.4586A>T	XP_005261992.1:p.Tyr1529Phe
XM_011530707.1:c.4766A>T	XP_011529009.1:p.Tyr1589Phe
XM_011530708.1:c.4718A>T	XP_011529010.1:p.Tyr1573Phe
XM_011530709.1:c.4694A>T	XP_011529011.1:p.Tyr1565Phe
XM_011530710.1:c.4691A>T	XP_011529012.1:p.Tyr1564Phe
XM_011530711.1:c.4691A>T	XP_011529013.1:p.Tyr1564Phe
XR_938344.1:n.4784A>T
NM_001365819.1:c.4589A>T	NP_001352748.1:p.Tyr1530Phe
XM_005261935.2:c.4586A>T	XP_005261992.1:p.Tyr1529Phe
XM_011530709.2:c.4694A>T	XP_011529011.1:p.Tyr1565Phe
XM_011530710.2:c.4691A>T	XP_011529012.1:p.Tyr1564Phe
XM_017028905.2:c.4616A>T	XP_016884394.1:p.Tyr1539Phe
NM_002972.4:c.4664A>T MANE Select	NP_002963.2:p.Tyr1555Phe