Canonical Allele Identifier: CA412193378

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893323A>T (hg19) ; chr22:g.50454894A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454894A>T , CM000684.2:g.50454894A>T	GRCh38
NC_000022.10:g.50893323A>T , CM000684.1:g.50893323A>T	GRCh37
NC_000022.9:g.49240189A>T	NCBI36
NG_041810.1:g.25178T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4654T>A	ENSP00000252027.8:p.Ser1552Thr
ENST00000418590.4:c.364T>A	ENSP00000401538.2:p.Ser122Thr
ENST00000470434.2:n.1135T>A
ENST00000684986.1:c.4735T>A	ENSP00000509117.1:p.Ser1579Thr
ENST00000685180.1:n.2488+5640T>A
ENST00000685390.1:n.2700T>A
ENST00000685411.1:n.482T>A
ENST00000685592.1:c.966T>A
ENST00000685809.1:c.4645T>A	ENSP00000508863.1:p.Ser1549Thr
ENST00000686029.1:c.810T>A
ENST00000686191.1:n.3932T>A
ENST00000686222.1:c.*4154T>A	ENSP00000508737.1:n.*4154T>A
ENST00000686321.1:c.828T>A
ENST00000686427.1:c.*1667T>A	ENSP00000510379.1:n.*1667T>A
ENST00000686758.1:n.2546T>A
ENST00000686801.1:c.4720T>A	ENSP00000509915.1:p.Ser1574Thr
ENST00000686826.1:n.1051T>A
ENST00000687016.1:c.4633T>A	ENSP00000509074.1:p.Ser1545Thr
ENST00000687704.1:c.*2457T>A	ENSP00000510454.1:n.*2457T>A
ENST00000688066.1:c.4732T>A	ENSP00000510782.1:p.Ser1578Thr
ENST00000688124.1:c.*3650T>A	ENSP00000510645.1:n.*3650T>A
ENST00000688848.1:c.*4076T>A	ENSP00000509419.1:n.*4076T>A
ENST00000688985.1:c.1733T>A	ENSP00000510477.1:n.1733T>A
ENST00000689129.1:c.4657T>A	ENSP00000510414.1:p.Ser1553Thr
ENST00000689177.1:n.6004T>A
ENST00000689849.1:c.828T>A
ENST00000689981.1:c.4732T>A	ENSP00000509035.1:p.Ser1578Thr
ENST00000690369.1:n.4750T>A
ENST00000690590.1:n.1779T>A
ENST00000690990.1:c.4726T>A	ENSP00000510461.1:p.Ser1576Thr
ENST00000691233.1:c.4651T>A	ENSP00000509215.1:p.Ser1551Thr
ENST00000691306.1:c.813T>A
ENST00000691345.1:n.2302+1322T>A
ENST00000691792.1:c.4720T>A	ENSP00000509911.1:p.Ser1574Thr
ENST00000691959.1:n.5451T>A
ENST00000692844.1:n.1816T>A
ENST00000692946.1:c.828T>A
ENST00000693052.1:c.4750T>A	ENSP00000509558.1:p.Ser1584Thr
ENST00000693289.1:n.1891T>A
ENST00000693440.1:c.4729T>A	ENSP00000509462.1:p.Ser1577Thr
ENST00000693499.1:n.5728T>A
ENST00000693591.1:n.3540T>A
ENST00000380817.8:c.4732T>A MANE Select	ENSP00000370196.2:p.Ser1578Thr
ENST00000348911.10:c.4657T>A	ENSP00000252027.7:p.Ser1553Thr
ENST00000380817.7:c.4732T>A	ENSP00000370196.2:p.Ser1578Thr
ENST00000418590.3:c.332T>A
ENST00000470434.1:n.873T>A
NM_002972.3:c.4732T>A	NP_002963.2:p.Ser1578Thr
XM_005261931.1:c.4735T>A	XP_005261988.1:p.Ser1579Thr
XM_005261935.1:c.4654T>A	XP_005261992.1:p.Ser1552Thr
XM_011530707.1:c.4834T>A	XP_011529009.1:p.Ser1612Thr
XM_011530708.1:c.4786T>A	XP_011529010.1:p.Ser1596Thr
XM_011530709.1:c.4762T>A	XP_011529011.1:p.Ser1588Thr
XM_011530710.1:c.4759T>A	XP_011529012.1:p.Ser1587Thr
XM_011530711.1:c.4759T>A	XP_011529013.1:p.Ser1587Thr
XR_938344.1:n.4852T>A
NM_001365819.1:c.4657T>A	NP_001352748.1:p.Ser1553Thr
XM_005261935.2:c.4654T>A	XP_005261992.1:p.Ser1552Thr
XM_011530709.2:c.4762T>A	XP_011529011.1:p.Ser1588Thr
XM_011530710.2:c.4759T>A	XP_011529012.1:p.Ser1587Thr
XM_017028905.2:c.4684T>A	XP_016884394.1:p.Ser1562Thr
NM_002972.4:c.4732T>A MANE Select	NP_002963.2:p.Ser1578Thr