Canonical Allele Identifier: CA10316628
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50459492C>T , CM000684.2:g.50459492C>T GRCh38
NC_000022.10:g.50897921C>T , CM000684.1:g.50897921C>T GRCh37
NC_000022.9:g.49244787C>T NCBI36
NG_041810.1:g.20580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348911.11:c.3666G>A ENSP00000252027.8:p.Lys1222=
ENST00000470434.2:n.89-100G>A
ENST00000684986.1:c.3669G>A ENSP00000509117.1:p.Lys1223=
ENST00000685180.1:n.2488+1042G>A
ENST00000685386.1:c.1509G>A ENSP00000510338.1:p.Lys503=
ENST00000685390.1:n.1735-100G>A
ENST00000685809.1:c.3657G>A ENSP00000508863.1:p.Lys1219=
ENST00000686191.1:n.363G>A
ENST00000686222.1:c.*3088G>A ENSP00000508737.1:n.*3088G>A
ENST00000686427.1:c.*679G>A ENSP00000510379.1:n.*679G>A
ENST00000686801.1:c.3654G>A ENSP00000509915.1:p.Lys1218=
ENST00000687016.1:c.3645G>A ENSP00000509074.1:p.Lys1215=
ENST00000687704.1:c.*1480G>A ENSP00000510454.1:n.*1480G>A
ENST00000687861.1:n.224G>A
ENST00000688066.1:c.3666G>A ENSP00000510782.1:p.Lys1222=
ENST00000688124.1:c.*2660G>A ENSP00000510645.1:n.*2660G>A
ENST00000688848.1:c.*3088G>A ENSP00000509419.1:n.*3088G>A
ENST00000688985.1:c.672G>A ENSP00000510477.1:p.Lys224=
ENST00000689129.1:c.3669G>A ENSP00000510414.1:p.Lys1223=
ENST00000689177.1:n.1802G>A
ENST00000689981.1:c.3666G>A ENSP00000509035.1:p.Lys1222=
ENST00000690369.1:n.3684G>A
ENST00000690590.1:n.713G>A
ENST00000690990.1:c.3660G>A ENSP00000510461.1:p.Lys1220=
ENST00000691233.1:c.3663G>A ENSP00000509215.1:p.Lys1221=
ENST00000691345.1:n.1785-82G>A
ENST00000691792.1:c.3666G>A ENSP00000509911.1:p.Lys1222=
ENST00000691959.1:n.3830G>A
ENST00000692006.1:c.654G>A ENSP00000509653.1:p.Lys218=
ENST00000692844.1:n.828G>A
ENST00000693052.1:c.3666G>A ENSP00000509558.1:p.Lys1222=
ENST00000693289.1:n.465G>A
ENST00000693440.1:c.3663G>A ENSP00000509462.1:p.Lys1221=
ENST00000693499.1:n.4154G>A
ENST00000380817.8:c.3666G>A MANE Select ENSP00000370196.2:p.Lys1222=
ENST00000348911.10:c.3669G>A ENSP00000252027.7:p.Lys1223=
ENST00000380817.7:c.3666G>A ENSP00000370196.2:p.Lys1222=
NM_002972.3:c.3666G>A NP_002963.2:p.Lys1222=
XM_005261931.1:c.3669G>A XP_005261988.1:p.Lys1223=
XM_005261935.1:c.3666G>A XP_005261992.1:p.Lys1222=
XM_011530707.1:c.3768G>A XP_011529009.1:p.Lys1256=
XM_011530708.1:c.3720G>A XP_011529010.1:p.Lys1240=
XM_011530709.1:c.3696G>A XP_011529011.1:p.Lys1232=
XM_011530710.1:c.3693G>A XP_011529012.1:p.Lys1231=
XM_011530711.1:c.3771G>A XP_011529013.1:p.Lys1257=
XR_938344.1:n.3786G>A
NM_001365819.1:c.3669G>A NP_001352748.1:p.Lys1223=
XM_005261935.2:c.3666G>A XP_005261992.1:p.Lys1222=
XM_011530709.2:c.3696G>A XP_011529011.1:p.Lys1232=
XM_011530710.2:c.3693G>A XP_011529012.1:p.Lys1231=
XM_017028905.2:c.3696G>A XP_016884394.1:p.Lys1232=
NM_002972.4:c.3666G>A MANE Select NP_002963.2:p.Lys1222=