Canonical Allele Identifier: CA2573331822
Gene: SBF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1711197
ClinVar RCV Id: RCV002292713
MutSpliceDB: CA2573331822

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50447319C>G , CM000684.2:g.50447319C>G GRCh38
NC_000022.10:g.50885748C>G , CM000684.1:g.50885748C>G GRCh37
NC_000022.9:g.49232614C>G NCBI36
NG_041810.1:g.32753G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348911.11:c.5505+3G>C ENSP00000252027.8:n.5505+3G>C
ENST00000418590.4:c.1179+3G>C ENSP00000401538.2:n.1179+3G>C
ENST00000470434.2:n.1986+3G>C
ENST00000473724.2:n.722+3G>C
ENST00000684986.1:c.5586+3G>C ENSP00000509117.1:n.5586+3G>C
ENST00000685180.1:n.3197G>C
ENST00000685390.1:n.3534+3G>C
ENST00000685411.1:n.1956+3G>C
ENST00000685459.1:c.738G>C ENSP00000509511.1:p.Val246=
ENST00000685592.1:c.1833+3G>C
ENST00000685809.1:c.5496+3G>C ENSP00000508863.1:n.5496+3G>C
ENST00000686191.1:n.4783+3G>C
ENST00000686222.1:c.*5005+3G>C ENSP00000508737.1:n.*5005+3G>C
ENST00000686321.1:c.1896+3G>C
ENST00000686427.1:c.*2515+3G>C ENSP00000510379.1:n.*2515+3G>C
ENST00000686758.1:n.3397+3G>C
ENST00000686801.1:c.*421+3G>C ENSP00000509915.1:n.*421+3G>C
ENST00000686826.1:n.1902+3G>C
ENST00000687016.1:c.5481+3G>C ENSP00000509074.1:n.5481+3G>C
ENST00000687704.1:c.*3379+3G>C ENSP00000510454.1:n.*3379+3G>C
ENST00000688066.1:c.5583+3G>C ENSP00000510782.1:n.5583+3G>C
ENST00000688124.1:c.*4484+3G>C ENSP00000510645.1:n.*4484+3G>C
ENST00000688381.1:c.704+3G>C ENSP00000508847.1:n.704+3G>C
ENST00000688848.1:c.*4927+3G>C ENSP00000509419.1:n.*4927+3G>C
ENST00000688985.1:c.2584+3G>C ENSP00000510477.1:n.2584+3G>C
ENST00000689129.1:c.5508+3G>C ENSP00000510414.1:n.5508+3G>C
ENST00000689177.1:n.6920+3G>C
ENST00000689849.1:c.1668+3G>C
ENST00000689981.1:c.5583+3G>C ENSP00000509035.1:n.5583+3G>C
ENST00000690197.1:c.101+3G>C
ENST00000690369.1:n.5601+3G>C
ENST00000690590.1:n.2630+3G>C
ENST00000690990.1:c.5577+3G>C ENSP00000510461.1:n.5577+3G>C
ENST00000691233.1:c.5502+3G>C ENSP00000509215.1:n.5502+3G>C
ENST00000691345.1:n.2913G>C
ENST00000691792.1:c.5568+3G>C ENSP00000509911.1:n.5568+3G>C
ENST00000691959.1:n.6925+3G>C
ENST00000692844.1:n.2667+3G>C
ENST00000692946.1:c.1679+3G>C
ENST00000693052.1:c.5601+3G>C ENSP00000509558.1:n.5601+3G>C
ENST00000693068.1:c.666+3G>C ENSP00000509997.1:n.666+3G>C
ENST00000693440.1:c.5580+3G>C ENSP00000509462.1:n.5580+3G>C
ENST00000693591.1:n.4391+3G>C
ENST00000380817.8:c.5583+3G>C MANE Select ENSP00000370196.2:n.5583+3G>C
ENST00000348911.10:c.5508+3G>C ENSP00000252027.7:n.5508+3G>C
ENST00000380817.7:c.5583+3G>C ENSP00000370196.2:n.5583+3G>C
ENST00000418590.3:c.1147+3G>C
ENST00000470434.1:n.1724+3G>C
ENST00000473724.1:n.288+3G>C
NM_002972.3:c.5583+3G>C NP_002963.2:n.5583+3G>C
XM_005261931.1:c.5586+3G>C XP_005261988.1:n.5586+3G>C
XM_005261935.1:c.5505+3G>C XP_005261992.1:n.5505+3G>C
XM_011530707.1:c.5685+3G>C XP_011529009.1:n.5685+3G>C
XM_011530708.1:c.5637+3G>C XP_011529010.1:n.5637+3G>C
XM_011530709.1:c.5613+3G>C XP_011529011.1:n.5613+3G>C
XM_011530710.1:c.5610+3G>C XP_011529012.1:n.5610+3G>C
XM_011530711.1:c.5610+3G>C XP_011529013.1:n.5610+3G>C
XR_938344.1:n.5703+3G>C
NM_001365819.1:c.5508+3G>C NP_001352748.1:n.5508+3G>C
XM_005261935.2:c.5505+3G>C XP_005261992.1:n.5505+3G>C
XM_011530709.2:c.5613+3G>C XP_011529011.1:n.5613+3G>C
XM_011530710.2:c.5610+3G>C XP_011529012.1:n.5610+3G>C
XM_017028905.2:c.5535+3G>C XP_016884394.1:n.5535+3G>C
NM_002972.4:c.5583+3G>C MANE Select NP_002963.2:n.5583+3G>C