Canonical Allele Identifier: CA412194133

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893471T>A (hg19) ; chr22:g.50455042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455042T>A , CM000684.2:g.50455042T>A	GRCh38
NC_000022.10:g.50893471T>A , CM000684.1:g.50893471T>A	GRCh37
NC_000022.9:g.49240337T>A	NCBI36
NG_041810.1:g.25030A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4577A>T	ENSP00000252027.8:p.Asp1526Val
ENST00000418590.4:c.287A>T	ENSP00000401538.2:p.Asp96Val
ENST00000470434.2:n.1058A>T
ENST00000684986.1:c.4658A>T	ENSP00000509117.1:p.Asp1553Val
ENST00000685180.1:n.2488+5492A>T
ENST00000685390.1:n.2623A>T
ENST00000685411.1:n.405A>T
ENST00000685592.1:c.889A>T
ENST00000685809.1:c.4568A>T	ENSP00000508863.1:p.Asp1523Val
ENST00000686029.1:c.733A>T
ENST00000686191.1:n.3855A>T
ENST00000686222.1:c.*4077A>T	ENSP00000508737.1:n.*4077A>T
ENST00000686321.1:c.751A>T
ENST00000686427.1:c.*1590A>T	ENSP00000510379.1:n.*1590A>T
ENST00000686758.1:n.2398A>T
ENST00000686801.1:c.4643A>T	ENSP00000509915.1:p.Asp1548Val
ENST00000686826.1:n.974A>T
ENST00000687016.1:c.4556A>T	ENSP00000509074.1:p.Asp1519Val
ENST00000687704.1:c.*2380A>T	ENSP00000510454.1:n.*2380A>T
ENST00000688066.1:c.4655A>T	ENSP00000510782.1:p.Asp1552Val
ENST00000688124.1:c.*3573A>T	ENSP00000510645.1:n.*3573A>T
ENST00000688848.1:c.*3999A>T	ENSP00000509419.1:n.*3999A>T
ENST00000688985.1:c.1656A>T	ENSP00000510477.1:n.1656A>T
ENST00000689129.1:c.4580A>T	ENSP00000510414.1:p.Asp1527Val
ENST00000689177.1:n.5927A>T
ENST00000689849.1:c.751A>T
ENST00000689981.1:c.4655A>T	ENSP00000509035.1:p.Asp1552Val
ENST00000690369.1:n.4673A>T
ENST00000690590.1:n.1702A>T
ENST00000690990.1:c.4649A>T	ENSP00000510461.1:p.Asp1550Val
ENST00000691233.1:c.4574A>T	ENSP00000509215.1:p.Asp1525Val
ENST00000691306.1:c.753A>T
ENST00000691345.1:n.2302+1174A>T
ENST00000691792.1:c.4643A>T	ENSP00000509911.1:p.Asp1548Val
ENST00000691959.1:n.5374A>T
ENST00000692844.1:n.1739A>T
ENST00000692946.1:c.751A>T
ENST00000693052.1:c.4673A>T	ENSP00000509558.1:p.Asp1558Val
ENST00000693289.1:n.1814A>T
ENST00000693440.1:c.4652A>T	ENSP00000509462.1:p.Asp1551Val
ENST00000693499.1:n.5580A>T
ENST00000693591.1:n.3392A>T
ENST00000380817.8:c.4655A>T MANE Select	ENSP00000370196.2:p.Asp1552Val
ENST00000348911.10:c.4580A>T	ENSP00000252027.7:p.Asp1527Val
ENST00000380817.7:c.4655A>T	ENSP00000370196.2:p.Asp1552Val
ENST00000418590.3:c.255A>T
ENST00000470434.1:n.796A>T
NM_002972.3:c.4655A>T	NP_002963.2:p.Asp1552Val
XM_005261931.1:c.4658A>T	XP_005261988.1:p.Asp1553Val
XM_005261935.1:c.4577A>T	XP_005261992.1:p.Asp1526Val
XM_011530707.1:c.4757A>T	XP_011529009.1:p.Asp1586Val
XM_011530708.1:c.4709A>T	XP_011529010.1:p.Asp1570Val
XM_011530709.1:c.4685A>T	XP_011529011.1:p.Asp1562Val
XM_011530710.1:c.4682A>T	XP_011529012.1:p.Asp1561Val
XM_011530711.1:c.4682A>T	XP_011529013.1:p.Asp1561Val
XR_938344.1:n.4775A>T
NM_001365819.1:c.4580A>T	NP_001352748.1:p.Asp1527Val
XM_005261935.2:c.4577A>T	XP_005261992.1:p.Asp1526Val
XM_011530709.2:c.4685A>T	XP_011529011.1:p.Asp1562Val
XM_011530710.2:c.4682A>T	XP_011529012.1:p.Asp1561Val
XM_017028905.2:c.4607A>T	XP_016884394.1:p.Asp1536Val
NM_002972.4:c.4655A>T MANE Select	NP_002963.2:p.Asp1552Val