Canonical Allele Identifier: CA325531587
Community Standard Title: NM_002972.4(SBF1):c.3826+1G>A
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50459254C>T , CM000684.2:g.50459254C>T GRCh38
NC_000022.10:g.50897683C>T , CM000684.1:g.50897683C>T GRCh37
NC_000022.9:g.49244549C>T NCBI36
NG_041810.1:g.20818G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.3826+1G>A MANE Select NP_002963.2:n.3826+1G>A
ENST00000380817.8:c.3826+1G>A MANE Select ENSP00000370196.2:n.3826+1G>A
NM_001365819.1:c.3829+1G>A NP_001352748.1:n.3829+1G>A
NM_002972.3:c.3826+1G>A NP_002963.2:n.3826+1G>A
ENST00000348911.10:c.3829+1G>A ENSP00000252027.7:n.3829+1G>A
ENST00000348911.11:c.3826+1G>A ENSP00000252027.8:n.3826+1G>A
ENST00000380817.7:c.3826+1G>A ENSP00000370196.2:n.3826+1G>A
ENST00000470434.2:n.226+1G>A
ENST00000684986.1:c.3829+1G>A ENSP00000509117.1:n.3829+1G>A
ENST00000685180.1:n.2488+1280G>A
ENST00000685390.1:n.1872+1G>A
ENST00000685592.1:c.138+1G>A
ENST00000685809.1:c.3817+1G>A ENSP00000508863.1:n.3817+1G>A
ENST00000686191.1:n.524G>A
ENST00000686222.1:c.*3248+1G>A ENSP00000508737.1:n.*3248+1G>A
ENST00000686427.1:c.*839+1G>A ENSP00000510379.1:n.*839+1G>A
ENST00000686801.1:c.3814+1G>A ENSP00000509915.1:n.3814+1G>A
ENST00000687016.1:c.3805+1G>A ENSP00000509074.1:n.3805+1G>A
ENST00000687704.1:c.*1629+1G>A ENSP00000510454.1:n.*1629+1G>A
ENST00000687861.1:n.384+1G>A
ENST00000688066.1:c.3826+1G>A ENSP00000510782.1:n.3826+1G>A
ENST00000688124.1:c.*2820+1G>A ENSP00000510645.1:n.*2820+1G>A
ENST00000688848.1:c.*3248+1G>A ENSP00000509419.1:n.*3248+1G>A
ENST00000688985.1:c.832+1G>A ENSP00000510477.1:n.832+1G>A
ENST00000689129.1:c.3829+1G>A ENSP00000510414.1:n.3829+1G>A
ENST00000689177.1:n.1963G>A
ENST00000689981.1:c.3826+1G>A ENSP00000509035.1:n.3826+1G>A
ENST00000690369.1:n.3844+1G>A
ENST00000690590.1:n.873+1G>A
ENST00000690990.1:c.3820+1G>A ENSP00000510461.1:n.3820+1G>A
ENST00000691233.1:c.3823+1G>A ENSP00000509215.1:n.3823+1G>A
ENST00000691345.1:n.1940+1G>A
ENST00000691792.1:c.3826+1G>A ENSP00000509911.1:n.3826+1G>A
ENST00000691959.1:n.3990+1G>A
ENST00000692844.1:n.988+1G>A
ENST00000693052.1:c.3844+1G>A ENSP00000509558.1:n.3844+1G>A
ENST00000693289.1:n.625+1G>A
ENST00000693440.1:c.3823+1G>A ENSP00000509462.1:n.3823+1G>A
ENST00000693499.1:n.4391+1G>A
XM_005261931.1:c.3829+1G>A XP_005261988.1:n.3829+1G>A
XM_005261935.1:c.3826+1G>A XP_005261992.1:n.3826+1G>A
XM_005261935.2:c.3826+1G>A XP_005261992.1:n.3826+1G>A
XM_011530707.1:c.3928+1G>A XP_011529009.1:n.3928+1G>A
XM_011530708.1:c.3880+1G>A XP_011529010.1:n.3880+1G>A
XM_011530709.1:c.3856+1G>A XP_011529011.1:n.3856+1G>A
XM_011530709.2:c.3856+1G>A XP_011529011.1:n.3856+1G>A
XM_011530710.1:c.3853+1G>A XP_011529012.1:n.3853+1G>A
XM_011530710.2:c.3853+1G>A XP_011529012.1:n.3853+1G>A
XM_011530711.1:c.3931+1G>A XP_011529013.1:n.3931+1G>A
XM_017028905.2:c.3856+1G>A XP_016884394.1:n.3856+1G>A
XR_938344.1:n.3946+1G>A