Canonical Allele Identifier: CA412218694

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50465238C>A , CM000684.2:g.50465238C>A	GRCh38
NC_000022.10:g.50903667C>A , CM000684.1:g.50903667C>A	GRCh37
NC_000022.9:g.49250533C>A	NCBI36
NG_041810.1:g.14834G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.1180G>T MANE Select	NP_002963.2:p.Glu394Ter
ENST00000380817.8:c.1180G>T MANE Select	ENSP00000370196.2:p.Glu394Ter
NM_001365819.1:c.1183G>T	NP_001352748.1:p.Glu395Ter
NM_002972.3:c.1180G>T	NP_002963.2:p.Glu394Ter
ENST00000348911.10:c.1183G>T	ENSP00000252027.7:p.Glu395Ter
ENST00000348911.11:c.1180G>T	ENSP00000252027.8:p.Glu394Ter
ENST00000380817.7:c.1180G>T	ENSP00000370196.2:p.Glu394Ter
ENST00000684986.1:c.1183G>T	ENSP00000509117.1:p.Glu395Ter
ENST00000685180.1:n.488-500G>T
ENST00000685239.1:c.91G>T	ENSP00000509640.1:p.Glu31Ter
ENST00000685809.1:c.1174G>T	ENSP00000508863.1:p.Glu392Ter
ENST00000686222.1:c.*605G>T	ENSP00000508737.1:n.*605G>T
ENST00000686427.1:c.1180G>T	ENSP00000510379.1:p.Glu394Ter
ENST00000686717.1:c.449G>T
ENST00000686801.1:c.1171G>T	ENSP00000509915.1:p.Glu391Ter
ENST00000687016.1:c.1174G>T	ENSP00000509074.1:p.Glu392Ter
ENST00000687704.1:c.1180G>T	ENSP00000510454.1:p.Glu394Ter
ENST00000688066.1:c.1183G>T	ENSP00000510782.1:p.Glu395Ter
ENST00000688124.1:c.*174G>T	ENSP00000510645.1:n.*174G>T
ENST00000688848.1:c.*605G>T	ENSP00000509419.1:n.*605G>T
ENST00000689129.1:c.1183G>T	ENSP00000510414.1:p.Glu395Ter
ENST00000689981.1:c.1180G>T	ENSP00000509035.1:p.Glu394Ter
ENST00000690369.1:n.1201G>T
ENST00000690990.1:c.1174G>T	ENSP00000510461.1:p.Glu392Ter
ENST00000691233.1:c.1180G>T	ENSP00000509215.1:p.Glu394Ter
ENST00000691792.1:c.1180G>T	ENSP00000509911.1:p.Glu394Ter
ENST00000691959.1:n.822G>T
ENST00000693052.1:c.1180G>T	ENSP00000509558.1:p.Glu394Ter
ENST00000693440.1:c.1180G>T	ENSP00000509462.1:p.Glu394Ter
ENST00000693675.1:n.560G>T
XM_005261931.1:c.1183G>T	XP_005261988.1:p.Glu395Ter
XM_005261935.1:c.1180G>T	XP_005261992.1:p.Glu394Ter
XM_005261935.2:c.1180G>T	XP_005261992.1:p.Glu394Ter
XM_011530707.1:c.1282G>T	XP_011529009.1:p.Glu428Ter
XM_011530708.1:c.1234G>T	XP_011529010.1:p.Glu412Ter
XM_011530709.1:c.1210G>T	XP_011529011.1:p.Glu404Ter
XM_011530709.2:c.1210G>T	XP_011529011.1:p.Glu404Ter
XM_011530710.1:c.1207G>T	XP_011529012.1:p.Glu403Ter
XM_011530710.2:c.1207G>T	XP_011529012.1:p.Glu403Ter
XM_011530711.1:c.1285G>T	XP_011529013.1:p.Glu429Ter
XM_017028905.2:c.1210G>T	XP_016884394.1:p.Glu404Ter
XR_938344.1:n.1300G>T