Canonical Allele Identifier: CA412193692

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893362C>G (hg19) ; chr22:g.50454933C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4615G>C	ENSP00000252027.8:p.Glu1539Gln
ENST00000418590.4:c.325G>C	ENSP00000401538.2:p.Glu109Gln
ENST00000470434.2:n.1096G>C
ENST00000684986.1:c.4696G>C	ENSP00000509117.1:p.Glu1566Gln
ENST00000685180.1:n.2488+5601G>C
ENST00000685390.1:n.2661G>C
ENST00000685411.1:n.443G>C
ENST00000685592.1:c.927G>C
ENST00000685809.1:c.4606G>C	ENSP00000508863.1:p.Glu1536Gln
ENST00000686029.1:c.771G>C
ENST00000686191.1:n.3893G>C
ENST00000686222.1:c.*4115G>C	ENSP00000508737.1:n.*4115G>C
ENST00000686321.1:c.789G>C
ENST00000686427.1:c.*1628G>C	ENSP00000510379.1:n.*1628G>C
ENST00000686758.1:n.2507G>C
ENST00000686801.1:c.4681G>C	ENSP00000509915.1:p.Glu1561Gln
ENST00000686826.1:n.1012G>C
ENST00000687016.1:c.4594G>C	ENSP00000509074.1:p.Glu1532Gln
ENST00000687704.1:c.*2418G>C	ENSP00000510454.1:n.*2418G>C
ENST00000688066.1:c.4693G>C	ENSP00000510782.1:p.Glu1565Gln
ENST00000688124.1:c.*3611G>C	ENSP00000510645.1:n.*3611G>C
ENST00000688848.1:c.*4037G>C	ENSP00000509419.1:n.*4037G>C
ENST00000688985.1:c.1694G>C	ENSP00000510477.1:n.1694G>C
ENST00000689129.1:c.4618G>C	ENSP00000510414.1:p.Glu1540Gln
ENST00000689177.1:n.5965G>C
ENST00000689849.1:c.789G>C
ENST00000689981.1:c.4693G>C	ENSP00000509035.1:p.Glu1565Gln
ENST00000690369.1:n.4711G>C
ENST00000690590.1:n.1740G>C
ENST00000690990.1:c.4687G>C	ENSP00000510461.1:p.Glu1563Gln
ENST00000691233.1:c.4612G>C	ENSP00000509215.1:p.Glu1538Gln
ENST00000691306.1:c.780-6G>C
ENST00000691345.1:n.2302+1283G>C
ENST00000691792.1:c.4681G>C	ENSP00000509911.1:p.Glu1561Gln
ENST00000691959.1:n.5412G>C
ENST00000692844.1:n.1777G>C
ENST00000692946.1:c.789G>C
ENST00000693052.1:c.4711G>C	ENSP00000509558.1:p.Glu1571Gln
ENST00000693289.1:n.1852G>C
ENST00000693440.1:c.4690G>C	ENSP00000509462.1:p.Glu1564Gln
ENST00000693499.1:n.5689G>C
ENST00000693591.1:n.3501G>C
ENST00000380817.8:c.4693G>C MANE Select	ENSP00000370196.2:p.Glu1565Gln
ENST00000348911.10:c.4618G>C	ENSP00000252027.7:p.Glu1540Gln
ENST00000380817.7:c.4693G>C	ENSP00000370196.2:p.Glu1565Gln
ENST00000418590.3:c.293G>C
ENST00000470434.1:n.834G>C
NM_002972.3:c.4693G>C	NP_002963.2:p.Glu1565Gln
XM_005261931.1:c.4696G>C	XP_005261988.1:p.Glu1566Gln
XM_005261935.1:c.4615G>C	XP_005261992.1:p.Glu1539Gln
XM_011530707.1:c.4795G>C	XP_011529009.1:p.Glu1599Gln
XM_011530708.1:c.4747G>C	XP_011529010.1:p.Glu1583Gln
XM_011530709.1:c.4723G>C	XP_011529011.1:p.Glu1575Gln
XM_011530710.1:c.4720G>C	XP_011529012.1:p.Glu1574Gln
XM_011530711.1:c.4720G>C	XP_011529013.1:p.Glu1574Gln
XR_938344.1:n.4813G>C
NM_001365819.1:c.4618G>C	NP_001352748.1:p.Glu1540Gln
XM_005261935.2:c.4615G>C	XP_005261992.1:p.Glu1539Gln
XM_011530709.2:c.4723G>C	XP_011529011.1:p.Glu1575Gln
XM_011530710.2:c.4720G>C	XP_011529012.1:p.Glu1574Gln
XM_017028905.2:c.4645G>C	XP_016884394.1:p.Glu1549Gln
NM_002972.4:c.4693G>C MANE Select	NP_002963.2:p.Glu1565Gln