Canonical Allele Identifier: CA2657546323

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50456147T>C , CM000684.2:g.50456147T>C	GRCh38
NC_000022.10:g.50894576T>C , CM000684.1:g.50894576T>C	GRCh37
NC_000022.9:g.49241442T>C	NCBI36
NG_041810.1:g.23925A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.4266+69A>G MANE Select	NP_002963.2:n.4266+69A>G
ENST00000380817.8:c.4266+69A>G MANE Select	ENSP00000370196.2:n.4266+69A>G
NM_001365819.1:c.4191+69A>G	NP_001352748.1:n.4191+69A>G
NM_002972.3:c.4266+69A>G	NP_002963.2:n.4266+69A>G
ENST00000348911.10:c.4191+69A>G	ENSP00000252027.7:n.4191+69A>G
ENST00000348911.11:c.4188+69A>G	ENSP00000252027.8:n.4188+69A>G
ENST00000380817.7:c.4266+69A>G	ENSP00000370196.2:n.4266+69A>G
ENST00000470434.2:n.588+69A>G
ENST00000684986.1:c.4269+69A>G	ENSP00000509117.1:n.4269+69A>G
ENST00000685180.1:n.2488+4387A>G
ENST00000685390.1:n.2234+69A>G
ENST00000685592.1:c.500+69A>G
ENST00000685809.1:c.4179+69A>G	ENSP00000508863.1:n.4179+69A>G
ENST00000686029.1:c.362+69A>G
ENST00000686191.1:n.3466+69A>G
ENST00000686222.1:c.*3688+69A>G	ENSP00000508737.1:n.*3688+69A>G
ENST00000686321.1:c.362+69A>G
ENST00000686427.1:c.*1201+69A>G	ENSP00000510379.1:n.*1201+69A>G
ENST00000686758.1:n.1928+69A>G
ENST00000686801.1:c.4254+69A>G	ENSP00000509915.1:n.4254+69A>G
ENST00000686826.1:n.583+69A>G
ENST00000687016.1:c.4167+69A>G	ENSP00000509074.1:n.4167+69A>G
ENST00000687704.1:c.*1991+69A>G	ENSP00000510454.1:n.*1991+69A>G
ENST00000688066.1:c.4266+69A>G	ENSP00000510782.1:n.4266+69A>G
ENST00000688124.1:c.*3182+69A>G	ENSP00000510645.1:n.*3182+69A>G
ENST00000688848.1:c.*3610+69A>G	ENSP00000509419.1:n.*3610+69A>G
ENST00000688985.1:c.1267+69A>G	ENSP00000510477.1:n.1267+69A>G
ENST00000689129.1:c.4191+69A>G	ENSP00000510414.1:n.4191+69A>G
ENST00000689177.1:n.4974A>G
ENST00000689849.1:c.362+69A>G
ENST00000689981.1:c.4266+69A>G	ENSP00000509035.1:n.4266+69A>G
ENST00000690369.1:n.4284+69A>G
ENST00000690590.1:n.1313+69A>G
ENST00000690990.1:c.4260+69A>G	ENSP00000510461.1:n.4260+69A>G
ENST00000691233.1:c.4185+69A>G	ENSP00000509215.1:n.4185+69A>G
ENST00000691306.1:c.362+69A>G
ENST00000691345.1:n.2302+69A>G
ENST00000691792.1:c.4266+69A>G	ENSP00000509911.1:n.4266+69A>G
ENST00000691959.1:n.4421A>G
ENST00000692844.1:n.1350+69A>G
ENST00000692946.1:c.362+69A>G
ENST00000693052.1:c.4284+69A>G	ENSP00000509558.1:n.4284+69A>G
ENST00000693289.1:n.1425+69A>G
ENST00000693440.1:c.4263+69A>G	ENSP00000509462.1:n.4263+69A>G
ENST00000693499.1:n.5191+69A>G
ENST00000693591.1:n.2439A>G
XM_005261931.1:c.4269+69A>G	XP_005261988.1:n.4269+69A>G
XM_005261935.1:c.4188+69A>G	XP_005261992.1:n.4188+69A>G
XM_005261935.2:c.4188+69A>G	XP_005261992.1:n.4188+69A>G
XM_011530707.1:c.4368+69A>G	XP_011529009.1:n.4368+69A>G
XM_011530708.1:c.4320+69A>G	XP_011529010.1:n.4320+69A>G
XM_011530709.1:c.4296+69A>G	XP_011529011.1:n.4296+69A>G
XM_011530709.2:c.4296+69A>G	XP_011529011.1:n.4296+69A>G
XM_011530710.1:c.4293+69A>G	XP_011529012.1:n.4293+69A>G
XM_011530710.2:c.4293+69A>G	XP_011529012.1:n.4293+69A>G
XM_011530711.1:c.4293+69A>G	XP_011529013.1:n.4293+69A>G
XM_017028905.2:c.4218+69A>G	XP_016884394.1:n.4218+69A>G
XR_938344.1:n.4386+69A>G