Canonical Allele Identifier: CA10317936

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50466179C>T , CM000684.2:g.50466179C>T	GRCh38
NC_000022.10:g.50904608C>T , CM000684.1:g.50904608C>T	GRCh37
NC_000022.9:g.49251474C>T	NCBI36
NG_041810.1:g.13893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.868G>A	ENSP00000252027.8:p.Ala290Thr
ENST00000684986.1:c.871G>A	ENSP00000509117.1:p.Ala291Thr
ENST00000685180.1:n.487+1159G>A
ENST00000685809.1:c.862G>A	ENSP00000508863.1:p.Ala288Thr
ENST00000686222.1:c.*293G>A	ENSP00000508737.1:n.*293G>A
ENST00000686421.1:c.319G>A
ENST00000686427.1:c.868G>A	ENSP00000510379.1:p.Ala290Thr
ENST00000686717.1:c.213G>A
ENST00000686801.1:c.859G>A	ENSP00000509915.1:p.Ala287Thr
ENST00000687016.1:c.862G>A	ENSP00000509074.1:p.Ala288Thr
ENST00000687704.1:c.868G>A	ENSP00000510454.1:p.Ala290Thr
ENST00000687878.1:c.456G>A
ENST00000688066.1:c.859G>A	ENSP00000510782.1:p.Ala287Thr
ENST00000688124.1:c.868G>A	ENSP00000510645.1:p.Ala290Thr
ENST00000688848.1:c.*293G>A	ENSP00000509419.1:n.*293G>A
ENST00000689095.1:c.134-105G>A
ENST00000689129.1:c.871G>A	ENSP00000510414.1:p.Ala291Thr
ENST00000689981.1:c.868G>A	ENSP00000509035.1:p.Ala290Thr
ENST00000690369.1:n.814G>A
ENST00000690990.1:c.862G>A	ENSP00000510461.1:p.Ala288Thr
ENST00000691233.1:c.868G>A	ENSP00000509215.1:p.Ala290Thr
ENST00000691792.1:c.868G>A	ENSP00000509911.1:p.Ala290Thr
ENST00000691959.1:n.510G>A
ENST00000692076.1:c.613G>A	ENSP00000510301.1:p.Ala205Thr
ENST00000693052.1:c.868G>A	ENSP00000509558.1:p.Ala290Thr
ENST00000693440.1:c.868G>A	ENSP00000509462.1:p.Ala290Thr
ENST00000693675.1:n.248G>A
ENST00000380817.8:c.868G>A MANE Select	ENSP00000370196.2:p.Ala290Thr
ENST00000348911.10:c.871G>A	ENSP00000252027.7:p.Ala291Thr
ENST00000380817.7:c.868G>A	ENSP00000370196.2:p.Ala290Thr
NM_002972.3:c.868G>A	NP_002963.2:p.Ala290Thr
XM_005261931.1:c.871G>A	XP_005261988.1:p.Ala291Thr
XM_005261935.1:c.868G>A	XP_005261992.1:p.Ala290Thr
XM_011530707.1:c.970G>A	XP_011529009.1:p.Ala324Thr
XM_011530708.1:c.922G>A	XP_011529010.1:p.Ala308Thr
XM_011530709.1:c.898G>A	XP_011529011.1:p.Ala300Thr
XM_011530710.1:c.895G>A	XP_011529012.1:p.Ala299Thr
XM_011530711.1:c.973G>A	XP_011529013.1:p.Ala325Thr
XR_938344.1:n.988G>A
NM_001365819.1:c.871G>A	NP_001352748.1:p.Ala291Thr
XM_005261935.2:c.868G>A	XP_005261992.1:p.Ala290Thr
XM_011530709.2:c.898G>A	XP_011529011.1:p.Ala300Thr
XM_011530710.2:c.895G>A	XP_011529012.1:p.Ala299Thr
XM_017028905.2:c.898G>A	XP_016884394.1:p.Ala300Thr
NM_002972.4:c.868G>A MANE Select	NP_002963.2:p.Ala290Thr