Canonical Allele Identifier: CA10317458
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50462921G>A , CM000684.2:g.50462921G>A GRCh38
NC_000022.10:g.50901350G>A , CM000684.1:g.50901350G>A GRCh37
NC_000022.9:g.49248216G>A NCBI36
NG_041810.1:g.17151C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348911.11:c.1917C>T ENSP00000252027.8:p.Asp639=
ENST00000684986.1:c.1920C>T ENSP00000509117.1:p.Asp640=
ENST00000685180.1:n.1420C>T
ENST00000685390.1:n.8C>T
ENST00000685809.1:c.1911C>T ENSP00000508863.1:p.Asp637=
ENST00000686222.1:c.*1342C>T ENSP00000508737.1:n.*1342C>T
ENST00000686427.1:c.1917C>T ENSP00000510379.1:p.Asp639=
ENST00000686801.1:c.1908C>T ENSP00000509915.1:p.Asp636=
ENST00000687016.1:c.1911C>T ENSP00000509074.1:p.Asp637=
ENST00000687704.1:c.1917C>T ENSP00000510454.1:p.Asp639=
ENST00000688066.1:c.1920C>T ENSP00000510782.1:p.Asp640=
ENST00000688124.1:c.*911C>T ENSP00000510645.1:n.*911C>T
ENST00000688848.1:c.*1342C>T ENSP00000509419.1:n.*1342C>T
ENST00000689129.1:c.1920C>T ENSP00000510414.1:p.Asp640=
ENST00000689981.1:c.1917C>T ENSP00000509035.1:p.Asp639=
ENST00000690369.1:n.1938C>T
ENST00000690990.1:c.1911C>T ENSP00000510461.1:p.Asp637=
ENST00000691233.1:c.1917C>T ENSP00000509215.1:p.Asp639=
ENST00000691345.1:n.181C>T
ENST00000691792.1:c.1917C>T ENSP00000509911.1:p.Asp639=
ENST00000691959.1:n.1559C>T
ENST00000693052.1:c.1917C>T ENSP00000509558.1:p.Asp639=
ENST00000693440.1:c.1917C>T ENSP00000509462.1:p.Asp639=
ENST00000693499.1:n.1562C>T
ENST00000380817.8:c.1917C>T MANE Select ENSP00000370196.2:p.Asp639=
ENST00000348911.10:c.1920C>T ENSP00000252027.7:p.Asp640=
ENST00000380817.7:c.1917C>T ENSP00000370196.2:p.Asp639=
NM_002972.3:c.1917C>T NP_002963.2:p.Asp639=
XM_005261931.1:c.1920C>T XP_005261988.1:p.Asp640=
XM_005261935.1:c.1917C>T XP_005261992.1:p.Asp639=
XM_011530707.1:c.2019C>T XP_011529009.1:p.Asp673=
XM_011530708.1:c.1971C>T XP_011529010.1:p.Asp657=
XM_011530709.1:c.1947C>T XP_011529011.1:p.Asp649=
XM_011530710.1:c.1944C>T XP_011529012.1:p.Asp648=
XM_011530711.1:c.2022C>T XP_011529013.1:p.Asp674=
XR_938344.1:n.2037C>T
NM_001365819.1:c.1920C>T NP_001352748.1:p.Asp640=
XM_005261935.2:c.1917C>T XP_005261992.1:p.Asp639=
XM_011530709.2:c.1947C>T XP_011529011.1:p.Asp649=
XM_011530710.2:c.1944C>T XP_011529012.1:p.Asp648=
XM_017028905.2:c.1947C>T XP_016884394.1:p.Asp649=
NM_002972.4:c.1917C>T MANE Select NP_002963.2:p.Asp639=