Canonical Allele Identifier: CA325524027
Community Standard Title: NM_002972.4(SBF1):c.*112C>T
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50447030G>A , CM000684.2:g.50447030G>A GRCh38
NC_000022.10:g.50885459G>A , CM000684.1:g.50885459G>A GRCh37
NC_000022.9:g.49232325G>A NCBI36
NG_041810.1:g.33042C>T
NG_054883.1:g.108714G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.*112C>T MANE Select NP_002963.2:n.*112C>T
ENST00000380817.8:c.*112C>T MANE Select ENSP00000370196.2:n.*112C>T
NM_001365819.1:c.*112C>T NP_001352748.1:n.*112C>T
NM_002972.3:c.*112C>T NP_002963.2:n.*112C>T
ENST00000348911.10:c.*112C>T ENSP00000252027.7:n.*112C>T
ENST00000348911.11:c.*112C>T ENSP00000252027.8:n.*112C>T
ENST00000380817.7:c.*112C>T ENSP00000370196.2:n.*112C>T
ENST00000418590.3:c.1358C>T
ENST00000418590.4:c.1390C>T ENSP00000401538.2:n.1390C>T
ENST00000470434.1:n.1935C>T
ENST00000470434.2:n.2197C>T
ENST00000473724.2:n.933C>T
ENST00000684986.1:c.*112C>T ENSP00000509117.1:n.*112C>T
ENST00000685180.1:n.3486C>T
ENST00000685390.1:n.3745C>T
ENST00000685459.1:c.1027C>T ENSP00000509511.1:n.1027C>T
ENST00000685592.1:c.2044C>T
ENST00000685809.1:c.*112C>T ENSP00000508863.1:n.*112C>T
ENST00000686191.1:n.4994C>T
ENST00000686222.1:c.*5216C>T ENSP00000508737.1:n.*5216C>T
ENST00000686321.1:c.2107C>T
ENST00000686427.1:c.*2726C>T ENSP00000510379.1:n.*2726C>T
ENST00000686758.1:n.3608C>T
ENST00000686801.1:c.*632C>T ENSP00000509915.1:n.*632C>T
ENST00000686826.1:n.2113C>T
ENST00000687016.1:c.*112C>T ENSP00000509074.1:n.*112C>T
ENST00000687704.1:c.*3590C>T ENSP00000510454.1:n.*3590C>T
ENST00000688066.1:c.*112C>T ENSP00000510782.1:n.*112C>T
ENST00000688124.1:c.*4695C>T ENSP00000510645.1:n.*4695C>T
ENST00000688848.1:c.*5138C>T ENSP00000509419.1:n.*5138C>T
ENST00000688985.1:c.2795C>T ENSP00000510477.1:n.2795C>T
ENST00000689129.1:c.*112C>T ENSP00000510414.1:n.*112C>T
ENST00000689177.1:n.7131C>T
ENST00000689849.1:c.1879C>T
ENST00000689981.1:c.*112C>T ENSP00000509035.1:n.*112C>T
ENST00000690197.1:c.253+59C>T
ENST00000690369.1:n.5812C>T
ENST00000690590.1:n.2841C>T
ENST00000690990.1:c.*112C>T ENSP00000510461.1:n.*112C>T
ENST00000691233.1:c.*112C>T ENSP00000509215.1:n.*112C>T
ENST00000691345.1:n.3202C>T
ENST00000691792.1:c.*112C>T ENSP00000509911.1:n.*112C>T
ENST00000691959.1:n.7136C>T
ENST00000692844.1:n.2878C>T
ENST00000692946.1:c.1831+59C>T
ENST00000693052.1:c.*112C>T ENSP00000509558.1:n.*112C>T
ENST00000693068.1:c.877C>T ENSP00000509997.1:n.877C>T
ENST00000693440.1:c.*112C>T ENSP00000509462.1:n.*112C>T
ENST00000693591.1:n.4602C>T
XM_005261931.1:c.*112C>T XP_005261988.1:n.*112C>T
XM_005261935.1:c.*112C>T XP_005261992.1:n.*112C>T
XM_005261935.2:c.*112C>T XP_005261992.1:n.*112C>T
XM_011530707.1:c.*112C>T XP_011529009.1:n.*112C>T
XM_011530708.1:c.*112C>T XP_011529010.1:n.*112C>T
XM_011530709.1:c.*112C>T XP_011529011.1:n.*112C>T
XM_011530709.2:c.*112C>T XP_011529011.1:n.*112C>T
XM_011530710.1:c.*112C>T XP_011529012.1:n.*112C>T
XM_011530710.2:c.*112C>T XP_011529012.1:n.*112C>T
XM_011530711.1:c.*112C>T XP_011529013.1:n.*112C>T
XM_017028905.2:c.*112C>T XP_016884394.1:n.*112C>T
XR_938344.1:n.5914C>T