Canonical Allele Identifier: CA412193688

Gene: SBF1

Linked Data

• dbSNP Id: rs1556420015
• MyVariant Identifiers: chr22:g.50893362C>A (hg19) ; chr22:g.50454933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454933C>A , CM000684.2:g.50454933C>A	GRCh38
NC_000022.10:g.50893362C>A , CM000684.1:g.50893362C>A	GRCh37
NC_000022.9:g.49240228C>A	NCBI36
NG_041810.1:g.25139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4615G>T	ENSP00000252027.8:p.Glu1539Ter
ENST00000418590.4:c.325G>T	ENSP00000401538.2:p.Glu109Ter
ENST00000470434.2:n.1096G>T
ENST00000684986.1:c.4696G>T	ENSP00000509117.1:p.Glu1566Ter
ENST00000685180.1:n.2488+5601G>T
ENST00000685390.1:n.2661G>T
ENST00000685411.1:n.443G>T
ENST00000685592.1:c.927G>T
ENST00000685809.1:c.4606G>T	ENSP00000508863.1:p.Glu1536Ter
ENST00000686029.1:c.771G>T
ENST00000686191.1:n.3893G>T
ENST00000686222.1:c.*4115G>T	ENSP00000508737.1:n.*4115G>T
ENST00000686321.1:c.789G>T
ENST00000686427.1:c.*1628G>T	ENSP00000510379.1:n.*1628G>T
ENST00000686758.1:n.2507G>T
ENST00000686801.1:c.4681G>T	ENSP00000509915.1:p.Glu1561Ter
ENST00000686826.1:n.1012G>T
ENST00000687016.1:c.4594G>T	ENSP00000509074.1:p.Glu1532Ter
ENST00000687704.1:c.*2418G>T	ENSP00000510454.1:n.*2418G>T
ENST00000688066.1:c.4693G>T	ENSP00000510782.1:p.Glu1565Ter
ENST00000688124.1:c.*3611G>T	ENSP00000510645.1:n.*3611G>T
ENST00000688848.1:c.*4037G>T	ENSP00000509419.1:n.*4037G>T
ENST00000688985.1:c.1694G>T	ENSP00000510477.1:n.1694G>T
ENST00000689129.1:c.4618G>T	ENSP00000510414.1:p.Glu1540Ter
ENST00000689177.1:n.5965G>T
ENST00000689849.1:c.789G>T
ENST00000689981.1:c.4693G>T	ENSP00000509035.1:p.Glu1565Ter
ENST00000690369.1:n.4711G>T
ENST00000690590.1:n.1740G>T
ENST00000690990.1:c.4687G>T	ENSP00000510461.1:p.Glu1563Ter
ENST00000691233.1:c.4612G>T	ENSP00000509215.1:p.Glu1538Ter
ENST00000691306.1:c.780-6G>T
ENST00000691345.1:n.2302+1283G>T
ENST00000691792.1:c.4681G>T	ENSP00000509911.1:p.Glu1561Ter
ENST00000691959.1:n.5412G>T
ENST00000692844.1:n.1777G>T
ENST00000692946.1:c.789G>T
ENST00000693052.1:c.4711G>T	ENSP00000509558.1:p.Glu1571Ter
ENST00000693289.1:n.1852G>T
ENST00000693440.1:c.4690G>T	ENSP00000509462.1:p.Glu1564Ter
ENST00000693499.1:n.5689G>T
ENST00000693591.1:n.3501G>T
ENST00000380817.8:c.4693G>T MANE Select	ENSP00000370196.2:p.Glu1565Ter
ENST00000348911.10:c.4618G>T	ENSP00000252027.7:p.Glu1540Ter
ENST00000380817.7:c.4693G>T	ENSP00000370196.2:p.Glu1565Ter
ENST00000418590.3:c.293G>T
ENST00000470434.1:n.834G>T
NM_002972.3:c.4693G>T	NP_002963.2:p.Glu1565Ter
XM_005261931.1:c.4696G>T	XP_005261988.1:p.Glu1566Ter
XM_005261935.1:c.4615G>T	XP_005261992.1:p.Glu1539Ter
XM_011530707.1:c.4795G>T	XP_011529009.1:p.Glu1599Ter
XM_011530708.1:c.4747G>T	XP_011529010.1:p.Glu1583Ter
XM_011530709.1:c.4723G>T	XP_011529011.1:p.Glu1575Ter
XM_011530710.1:c.4720G>T	XP_011529012.1:p.Glu1574Ter
XM_011530711.1:c.4720G>T	XP_011529013.1:p.Glu1574Ter
XR_938344.1:n.4813G>T
NM_001365819.1:c.4618G>T	NP_001352748.1:p.Glu1540Ter
XM_005261935.2:c.4615G>T	XP_005261992.1:p.Glu1539Ter
XM_011530709.2:c.4723G>T	XP_011529011.1:p.Glu1575Ter
XM_011530710.2:c.4720G>T	XP_011529012.1:p.Glu1574Ter
XM_017028905.2:c.4645G>T	XP_016884394.1:p.Glu1549Ter
NM_002972.4:c.4693G>T MANE Select	NP_002963.2:p.Glu1565Ter