Canonical Allele Identifier: CA10316830

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50460364C>T , CM000684.2:g.50460364C>T	GRCh38
NC_000022.10:g.50898793C>T , CM000684.1:g.50898793C>T	GRCh37
NC_000022.9:g.49245659C>T	NCBI36
NG_041810.1:g.19708G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.3191G>A MANE Select	NP_002963.2:p.Gly1064Glu
ENST00000380817.8:c.3191G>A MANE Select	ENSP00000370196.2:p.Gly1064Glu
NM_001365819.1:c.3194G>A	NP_001352748.1:p.Gly1065Glu
NM_002972.3:c.3191G>A	NP_002963.2:p.Gly1064Glu
ENST00000348911.10:c.3194G>A	ENSP00000252027.7:p.Gly1065Glu
ENST00000348911.11:c.3191G>A	ENSP00000252027.8:p.Gly1064Glu
ENST00000380817.7:c.3191G>A	ENSP00000370196.2:p.Gly1064Glu
ENST00000684986.1:c.3194G>A	ENSP00000509117.1:p.Gly1065Glu
ENST00000685180.1:n.2488+170G>A
ENST00000685386.1:c.1034G>A	ENSP00000510338.1:p.Gly345Glu
ENST00000685390.1:n.1434G>A
ENST00000685809.1:c.3182G>A	ENSP00000508863.1:p.Gly1061Glu
ENST00000686222.1:c.*2613G>A	ENSP00000508737.1:n.*2613G>A
ENST00000686427.1:c.*204G>A	ENSP00000510379.1:n.*204G>A
ENST00000686801.1:c.3179G>A	ENSP00000509915.1:p.Gly1060Glu
ENST00000687016.1:c.3170G>A	ENSP00000509074.1:p.Gly1057Glu
ENST00000687704.1:c.*1005G>A	ENSP00000510454.1:n.*1005G>A
ENST00000688066.1:c.3191G>A	ENSP00000510782.1:p.Gly1064Glu
ENST00000688124.1:c.*2185G>A	ENSP00000510645.1:n.*2185G>A
ENST00000688848.1:c.*2613G>A	ENSP00000509419.1:n.*2613G>A
ENST00000688985.1:c.197G>A	ENSP00000510477.1:p.Gly66Glu
ENST00000689129.1:c.3194G>A	ENSP00000510414.1:p.Gly1065Glu
ENST00000689177.1:n.1042G>A
ENST00000689981.1:c.3191G>A	ENSP00000509035.1:p.Gly1064Glu
ENST00000690369.1:n.3209G>A
ENST00000690990.1:c.3185G>A	ENSP00000510461.1:p.Gly1062Glu
ENST00000691233.1:c.3188G>A	ENSP00000509215.1:p.Gly1063Glu
ENST00000691345.1:n.1692G>A
ENST00000691792.1:c.3191G>A	ENSP00000509911.1:p.Gly1064Glu
ENST00000691959.1:n.3070G>A
ENST00000692006.1:c.197G>A	ENSP00000509653.1:p.Gly66Glu
ENST00000692844.1:n.68G>A
ENST00000693052.1:c.3191G>A	ENSP00000509558.1:p.Gly1064Glu
ENST00000693440.1:c.3188G>A	ENSP00000509462.1:p.Gly1063Glu
ENST00000693499.1:n.3282G>A
XM_005261931.1:c.3194G>A	XP_005261988.1:p.Gly1065Glu
XM_005261935.1:c.3191G>A	XP_005261992.1:p.Gly1064Glu
XM_005261935.2:c.3191G>A	XP_005261992.1:p.Gly1064Glu
XM_011530707.1:c.3293G>A	XP_011529009.1:p.Gly1098Glu
XM_011530708.1:c.3245G>A	XP_011529010.1:p.Gly1082Glu
XM_011530709.1:c.3221G>A	XP_011529011.1:p.Gly1074Glu
XM_011530709.2:c.3221G>A	XP_011529011.1:p.Gly1074Glu
XM_011530710.1:c.3218G>A	XP_011529012.1:p.Gly1073Glu
XM_011530710.2:c.3218G>A	XP_011529012.1:p.Gly1073Glu
XM_011530711.1:c.3296G>A	XP_011529013.1:p.Gly1099Glu
XM_017028905.2:c.3221G>A	XP_016884394.1:p.Gly1074Glu
XR_938344.1:n.3311G>A