Canonical Allele Identifier: CA412192772

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893170A>T (hg19) ; chr22:g.50454741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454741A>T , CM000684.2:g.50454741A>T	GRCh38
NC_000022.10:g.50893170A>T , CM000684.1:g.50893170A>T	GRCh37
NC_000022.9:g.49240036A>T	NCBI36
NG_041810.1:g.25331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4736T>A	ENSP00000252027.8:p.Val1579Asp
ENST00000418590.4:c.445-35T>A	ENSP00000401538.2:n.445-35T>A
ENST00000470434.2:n.1217T>A
ENST00000684986.1:c.4817T>A	ENSP00000509117.1:p.Val1606Asp
ENST00000685180.1:n.2488+5793T>A
ENST00000685390.1:n.2781-16T>A
ENST00000685411.1:n.564T>A
ENST00000685592.1:c.1048T>A
ENST00000685809.1:c.4727T>A	ENSP00000508863.1:p.Val1576Asp
ENST00000686191.1:n.4014T>A
ENST00000686222.1:c.*4236T>A	ENSP00000508737.1:n.*4236T>A
ENST00000686321.1:c.910T>A
ENST00000686427.1:c.*1749T>A	ENSP00000510379.1:n.*1749T>A
ENST00000686758.1:n.2628T>A
ENST00000686801.1:c.4802T>A	ENSP00000509915.1:p.Val1601Asp
ENST00000686826.1:n.1133T>A
ENST00000687016.1:c.4715T>A	ENSP00000509074.1:p.Val1572Asp
ENST00000687704.1:c.*2610T>A	ENSP00000510454.1:n.*2610T>A
ENST00000688066.1:c.4814T>A	ENSP00000510782.1:p.Val1605Asp
ENST00000688124.1:c.*3731-16T>A	ENSP00000510645.1:n.*3731-16T>A
ENST00000688848.1:c.*4158T>A	ENSP00000509419.1:n.*4158T>A
ENST00000688985.1:c.1815T>A	ENSP00000510477.1:n.1815T>A
ENST00000689129.1:c.4739T>A	ENSP00000510414.1:p.Val1580Asp
ENST00000689177.1:n.6086T>A
ENST00000689849.1:c.910T>A
ENST00000689981.1:c.4814T>A	ENSP00000509035.1:p.Val1605Asp
ENST00000690369.1:n.4832T>A
ENST00000690590.1:n.1861T>A
ENST00000690990.1:c.4808T>A	ENSP00000510461.1:p.Val1603Asp
ENST00000691233.1:c.4733T>A	ENSP00000509215.1:p.Val1578Asp
ENST00000691306.1:c.895T>A
ENST00000691345.1:n.2302+1475T>A
ENST00000691792.1:c.4802T>A	ENSP00000509911.1:p.Val1601Asp
ENST00000691959.1:n.5533T>A
ENST00000692844.1:n.1898T>A
ENST00000692946.1:c.910T>A
ENST00000693052.1:c.4832T>A	ENSP00000509558.1:p.Val1611Asp
ENST00000693289.1:n.1973T>A
ENST00000693440.1:c.4811T>A	ENSP00000509462.1:p.Val1604Asp
ENST00000693499.1:n.5810T>A
ENST00000693591.1:n.3622T>A
ENST00000380817.8:c.4814T>A MANE Select	ENSP00000370196.2:p.Val1605Asp
ENST00000348911.10:c.4739T>A	ENSP00000252027.7:p.Val1580Asp
ENST00000380817.7:c.4814T>A	ENSP00000370196.2:p.Val1605Asp
ENST00000418590.3:c.413-35T>A
ENST00000470434.1:n.955T>A
NM_002972.3:c.4814T>A	NP_002963.2:p.Val1605Asp
XM_005261931.1:c.4817T>A	XP_005261988.1:p.Val1606Asp
XM_005261935.1:c.4736T>A	XP_005261992.1:p.Val1579Asp
XM_011530707.1:c.4916T>A	XP_011529009.1:p.Val1639Asp
XM_011530708.1:c.4868T>A	XP_011529010.1:p.Val1623Asp
XM_011530709.1:c.4844T>A	XP_011529011.1:p.Val1615Asp
XM_011530710.1:c.4841T>A	XP_011529012.1:p.Val1614Asp
XM_011530711.1:c.4841T>A	XP_011529013.1:p.Val1614Asp
XR_938344.1:n.4934T>A
NM_001365819.1:c.4739T>A	NP_001352748.1:p.Val1580Asp
XM_005261935.2:c.4736T>A	XP_005261992.1:p.Val1579Asp
XM_011530709.2:c.4844T>A	XP_011529011.1:p.Val1615Asp
XM_011530710.2:c.4841T>A	XP_011529012.1:p.Val1614Asp
XM_017028905.2:c.4766T>A	XP_016884394.1:p.Val1589Asp
NM_002972.4:c.4814T>A MANE Select	NP_002963.2:p.Val1605Asp