Canonical Allele Identifier: CA10315739
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50447194G>A , CM000684.2:g.50447194G>A GRCh38
NC_000022.10:g.50885623G>A , CM000684.1:g.50885623G>A GRCh37
NC_000022.9:g.49232489G>A NCBI36
NG_041810.1:g.32878C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348911.11:c.5552C>T ENSP00000252027.8:p.Pro1851Leu
ENST00000418590.4:c.1226C>T ENSP00000401538.2:p.Pro409Leu
ENST00000470434.2:n.2033C>T
ENST00000473724.2:n.769C>T
ENST00000684986.1:c.5633C>T ENSP00000509117.1:p.Pro1878Leu
ENST00000685180.1:n.3322C>T
ENST00000685390.1:n.3581C>T
ENST00000685411.1:n.2003C>T
ENST00000685459.1:c.863C>T ENSP00000509511.1:n.863C>T
ENST00000685592.1:c.1880C>T
ENST00000685809.1:c.5543C>T ENSP00000508863.1:p.Pro1848Leu
ENST00000686191.1:n.4830C>T
ENST00000686222.1:c.*5052C>T ENSP00000508737.1:n.*5052C>T
ENST00000686321.1:c.1943C>T
ENST00000686427.1:c.*2562C>T ENSP00000510379.1:n.*2562C>T
ENST00000686758.1:n.3444C>T
ENST00000686801.1:c.*468C>T ENSP00000509915.1:n.*468C>T
ENST00000686826.1:n.1949C>T
ENST00000687016.1:c.5528C>T ENSP00000509074.1:p.Pro1843Leu
ENST00000687704.1:c.*3426C>T ENSP00000510454.1:n.*3426C>T
ENST00000688066.1:c.5630C>T ENSP00000510782.1:p.Pro1877Leu
ENST00000688124.1:c.*4531C>T ENSP00000510645.1:n.*4531C>T
ENST00000688381.1:c.751C>T ENSP00000508847.1:n.751C>T
ENST00000688848.1:c.*4974C>T ENSP00000509419.1:n.*4974C>T
ENST00000688985.1:c.2631C>T ENSP00000510477.1:n.2631C>T
ENST00000689129.1:c.5555C>T ENSP00000510414.1:p.Pro1852Leu
ENST00000689177.1:n.6967C>T
ENST00000689849.1:c.1715C>T
ENST00000689981.1:c.5591C>T ENSP00000509035.1:p.Pro1864Leu
ENST00000690197.1:c.148C>T
ENST00000690369.1:n.5648C>T
ENST00000690590.1:n.2677C>T
ENST00000690990.1:c.5624C>T ENSP00000510461.1:p.Pro1875Leu
ENST00000691233.1:c.5549C>T ENSP00000509215.1:p.Pro1850Leu
ENST00000691345.1:n.3038C>T
ENST00000691792.1:c.5615C>T ENSP00000509911.1:p.Pro1872Leu
ENST00000691959.1:n.6972C>T
ENST00000692844.1:n.2714C>T
ENST00000692946.1:c.1726C>T
ENST00000693052.1:c.5648C>T ENSP00000509558.1:p.Pro1883Leu
ENST00000693068.1:c.713C>T ENSP00000509997.1:p.Pro238Leu
ENST00000693440.1:c.5627C>T ENSP00000509462.1:p.Pro1876Leu
ENST00000693591.1:n.4438C>T
ENST00000380817.8:c.5630C>T MANE Select ENSP00000370196.2:p.Pro1877Leu
ENST00000348911.10:c.5555C>T ENSP00000252027.7:p.Pro1852Leu
ENST00000380817.7:c.5630C>T ENSP00000370196.2:p.Pro1877Leu
ENST00000418590.3:c.1194C>T
ENST00000470434.1:n.1771C>T
ENST00000473724.1:n.335C>T
NM_002972.3:c.5630C>T NP_002963.2:p.Pro1877Leu
XM_005261931.1:c.5633C>T XP_005261988.1:p.Pro1878Leu
XM_005261935.1:c.5552C>T XP_005261992.1:p.Pro1851Leu
XM_011530707.1:c.5732C>T XP_011529009.1:p.Pro1911Leu
XM_011530708.1:c.5684C>T XP_011529010.1:p.Pro1895Leu
XM_011530709.1:c.5660C>T XP_011529011.1:p.Pro1887Leu
XM_011530710.1:c.5657C>T XP_011529012.1:p.Pro1886Leu
XM_011530711.1:c.5657C>T XP_011529013.1:p.Pro1886Leu
XR_938344.1:n.5750C>T
NM_001365819.1:c.5555C>T NP_001352748.1:p.Pro1852Leu
XM_005261935.2:c.5552C>T XP_005261992.1:p.Pro1851Leu
XM_011530709.2:c.5660C>T XP_011529011.1:p.Pro1887Leu
XM_011530710.2:c.5657C>T XP_011529012.1:p.Pro1886Leu
XM_017028905.2:c.5582C>T XP_016884394.1:p.Pro1861Leu
NM_002972.4:c.5630C>T MANE Select NP_002963.2:p.Pro1877Leu