Canonical Allele Identifier: CA412192922

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893256G>T (hg19) ; chr22:g.50454827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454827G>T , CM000684.2:g.50454827G>T	GRCh38
NC_000022.10:g.50893256G>T , CM000684.1:g.50893256G>T	GRCh37
NC_000022.9:g.49240122G>T	NCBI36
NG_041810.1:g.25245C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4721C>A	ENSP00000252027.8:p.Pro1574His
ENST00000418590.4:c.431C>A	ENSP00000401538.2:p.Pro144His
ENST00000470434.2:n.1202C>A
ENST00000684986.1:c.4802C>A	ENSP00000509117.1:p.Pro1601His
ENST00000685180.1:n.2488+5707C>A
ENST00000685390.1:n.2767C>A
ENST00000685411.1:n.549C>A
ENST00000685592.1:c.1033C>A
ENST00000685809.1:c.4712C>A	ENSP00000508863.1:p.Pro1571His
ENST00000686029.1:c.877C>A
ENST00000686191.1:n.3999C>A
ENST00000686222.1:c.*4221C>A	ENSP00000508737.1:n.*4221C>A
ENST00000686321.1:c.895C>A
ENST00000686427.1:c.*1734C>A	ENSP00000510379.1:n.*1734C>A
ENST00000686758.1:n.2613C>A
ENST00000686801.1:c.4787C>A	ENSP00000509915.1:p.Pro1596His
ENST00000686826.1:n.1118C>A
ENST00000687016.1:c.4700C>A	ENSP00000509074.1:p.Pro1567His
ENST00000687704.1:c.*2524C>A	ENSP00000510454.1:n.*2524C>A
ENST00000688066.1:c.4799C>A	ENSP00000510782.1:p.Pro1600His
ENST00000688124.1:c.*3717C>A	ENSP00000510645.1:n.*3717C>A
ENST00000688848.1:c.*4143C>A	ENSP00000509419.1:n.*4143C>A
ENST00000688985.1:c.1800C>A	ENSP00000510477.1:n.1800C>A
ENST00000689129.1:c.4724C>A	ENSP00000510414.1:p.Pro1575His
ENST00000689177.1:n.6071C>A
ENST00000689849.1:c.895C>A
ENST00000689981.1:c.4799C>A	ENSP00000509035.1:p.Pro1600His
ENST00000690369.1:n.4817C>A
ENST00000690590.1:n.1846C>A
ENST00000690990.1:c.4793C>A	ENSP00000510461.1:p.Pro1598His
ENST00000691233.1:c.4718C>A	ENSP00000509215.1:p.Pro1573His
ENST00000691306.1:c.880C>A
ENST00000691345.1:n.2302+1389C>A
ENST00000691792.1:c.4787C>A	ENSP00000509911.1:p.Pro1596His
ENST00000691959.1:n.5518C>A
ENST00000692844.1:n.1883C>A
ENST00000692946.1:c.895C>A
ENST00000693052.1:c.4817C>A	ENSP00000509558.1:p.Pro1606His
ENST00000693289.1:n.1958C>A
ENST00000693440.1:c.4796C>A	ENSP00000509462.1:p.Pro1599His
ENST00000693499.1:n.5795C>A
ENST00000693591.1:n.3607C>A
ENST00000380817.8:c.4799C>A MANE Select	ENSP00000370196.2:p.Pro1600His
ENST00000348911.10:c.4724C>A	ENSP00000252027.7:p.Pro1575His
ENST00000380817.7:c.4799C>A	ENSP00000370196.2:p.Pro1600His
ENST00000418590.3:c.399C>A
ENST00000470434.1:n.940C>A
NM_002972.3:c.4799C>A	NP_002963.2:p.Pro1600His
XM_005261931.1:c.4802C>A	XP_005261988.1:p.Pro1601His
XM_005261935.1:c.4721C>A	XP_005261992.1:p.Pro1574His
XM_011530707.1:c.4901C>A	XP_011529009.1:p.Pro1634His
XM_011530708.1:c.4853C>A	XP_011529010.1:p.Pro1618His
XM_011530709.1:c.4829C>A	XP_011529011.1:p.Pro1610His
XM_011530710.1:c.4826C>A	XP_011529012.1:p.Pro1609His
XM_011530711.1:c.4826C>A	XP_011529013.1:p.Pro1609His
XR_938344.1:n.4919C>A
NM_001365819.1:c.4724C>A	NP_001352748.1:p.Pro1575His
XM_005261935.2:c.4721C>A	XP_005261992.1:p.Pro1574His
XM_011530709.2:c.4829C>A	XP_011529011.1:p.Pro1610His
XM_011530710.2:c.4826C>A	XP_011529012.1:p.Pro1609His
XM_017028905.2:c.4751C>A	XP_016884394.1:p.Pro1584His
NM_002972.4:c.4799C>A MANE Select	NP_002963.2:p.Pro1600His