Canonical Allele Identifier: CA10316157

Gene: SBF1

Linked Data

• dbSNP Id: rs763009316
• ExAC: 22:50893369 C / T
• gnomAD v2: 22-50893369-C-T
• gnomAD v4: 22-50454940-C-T
• MyVariant Identifiers: chr22:g.50893369C>T (hg19) ; chr22:g.50454940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454940C>T , CM000684.2:g.50454940C>T	GRCh38
NC_000022.10:g.50893369C>T , CM000684.1:g.50893369C>T	GRCh37
NC_000022.9:g.49240235C>T	NCBI36
NG_041810.1:g.25132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4608G>A	ENSP00000252027.8:p.Leu1536=
ENST00000418590.4:c.318G>A	ENSP00000401538.2:p.Leu106=
ENST00000470434.2:n.1089G>A
ENST00000684986.1:c.4689G>A	ENSP00000509117.1:p.Leu1563=
ENST00000685180.1:n.2488+5594G>A
ENST00000685390.1:n.2654G>A
ENST00000685411.1:n.436G>A
ENST00000685592.1:c.920G>A
ENST00000685809.1:c.4599G>A	ENSP00000508863.1:p.Leu1533=
ENST00000686029.1:c.764G>A
ENST00000686191.1:n.3886G>A
ENST00000686222.1:c.*4108G>A	ENSP00000508737.1:n.*4108G>A
ENST00000686321.1:c.782G>A
ENST00000686427.1:c.*1621G>A	ENSP00000510379.1:n.*1621G>A
ENST00000686758.1:n.2500G>A
ENST00000686801.1:c.4674G>A	ENSP00000509915.1:p.Leu1558=
ENST00000686826.1:n.1005G>A
ENST00000687016.1:c.4587G>A	ENSP00000509074.1:p.Leu1529=
ENST00000687704.1:c.*2411G>A	ENSP00000510454.1:n.*2411G>A
ENST00000688066.1:c.4686G>A	ENSP00000510782.1:p.Leu1562=
ENST00000688124.1:c.*3604G>A	ENSP00000510645.1:n.*3604G>A
ENST00000688848.1:c.*4030G>A	ENSP00000509419.1:n.*4030G>A
ENST00000688985.1:c.1687G>A	ENSP00000510477.1:n.1687G>A
ENST00000689129.1:c.4611G>A	ENSP00000510414.1:p.Leu1537=
ENST00000689177.1:n.5958G>A
ENST00000689849.1:c.782G>A
ENST00000689981.1:c.4686G>A	ENSP00000509035.1:p.Leu1562=
ENST00000690369.1:n.4704G>A
ENST00000690590.1:n.1733G>A
ENST00000690990.1:c.4680G>A	ENSP00000510461.1:p.Leu1560=
ENST00000691233.1:c.4605G>A	ENSP00000509215.1:p.Leu1535=
ENST00000691306.1:c.780-13G>A
ENST00000691345.1:n.2302+1276G>A
ENST00000691792.1:c.4674G>A	ENSP00000509911.1:p.Leu1558=
ENST00000691959.1:n.5405G>A
ENST00000692844.1:n.1770G>A
ENST00000692946.1:c.782G>A
ENST00000693052.1:c.4704G>A	ENSP00000509558.1:p.Leu1568=
ENST00000693289.1:n.1845G>A
ENST00000693440.1:c.4683G>A	ENSP00000509462.1:p.Leu1561=
ENST00000693499.1:n.5682G>A
ENST00000693591.1:n.3494G>A
ENST00000380817.8:c.4686G>A MANE Select	ENSP00000370196.2:p.Leu1562=
ENST00000348911.10:c.4611G>A	ENSP00000252027.7:p.Leu1537=
ENST00000380817.7:c.4686G>A	ENSP00000370196.2:p.Leu1562=
ENST00000418590.3:c.286G>A
ENST00000470434.1:n.827G>A
NM_002972.3:c.4686G>A	NP_002963.2:p.Leu1562=
XM_005261931.1:c.4689G>A	XP_005261988.1:p.Leu1563=
XM_005261935.1:c.4608G>A	XP_005261992.1:p.Leu1536=
XM_011530707.1:c.4788G>A	XP_011529009.1:p.Leu1596=
XM_011530708.1:c.4740G>A	XP_011529010.1:p.Leu1580=
XM_011530709.1:c.4716G>A	XP_011529011.1:p.Leu1572=
XM_011530710.1:c.4713G>A	XP_011529012.1:p.Leu1571=
XM_011530711.1:c.4713G>A	XP_011529013.1:p.Leu1571=
XR_938344.1:n.4806G>A
NM_001365819.1:c.4611G>A	NP_001352748.1:p.Leu1537=
XM_005261935.2:c.4608G>A	XP_005261992.1:p.Leu1536=
XM_011530709.2:c.4716G>A	XP_011529011.1:p.Leu1572=
XM_011530710.2:c.4713G>A	XP_011529012.1:p.Leu1571=
XM_017028905.2:c.4638G>A	XP_016884394.1:p.Leu1546=
NM_002972.4:c.4686G>A MANE Select	NP_002963.2:p.Leu1562=