Canonical Allele Identifier: CA10317300

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50462406C>T , CM000684.2:g.50462406C>T	GRCh38
NC_000022.10:g.50900835C>T , CM000684.1:g.50900835C>T	GRCh37
NC_000022.9:g.49247701C>T	NCBI36
NG_041810.1:g.17666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.2195G>A	ENSP00000252027.8:p.Arg732His
ENST00000684986.1:c.2198G>A	ENSP00000509117.1:p.Arg733His
ENST00000685180.1:n.1935G>A
ENST00000685386.1:c.65G>A	ENSP00000510338.1:p.Arg22His
ENST00000685390.1:n.438G>A
ENST00000685809.1:c.2186G>A	ENSP00000508863.1:p.Arg729His
ENST00000686222.1:c.*1617G>A	ENSP00000508737.1:n.*1617G>A
ENST00000686427.1:c.2195G>A	ENSP00000510379.1:p.Arg732His
ENST00000686801.1:c.2183G>A	ENSP00000509915.1:p.Arg728His
ENST00000687016.1:c.2186G>A	ENSP00000509074.1:p.Arg729His
ENST00000687704.1:c.*9G>A	ENSP00000510454.1:n.*9G>A
ENST00000688030.1:c.65G>A	ENSP00000508668.1:p.Arg22His
ENST00000688066.1:c.2195G>A	ENSP00000510782.1:p.Arg732His
ENST00000688124.1:c.*1189G>A	ENSP00000510645.1:n.*1189G>A
ENST00000688848.1:c.*1617G>A	ENSP00000509419.1:n.*1617G>A
ENST00000689129.1:c.2198G>A	ENSP00000510414.1:p.Arg733His
ENST00000689981.1:c.2195G>A	ENSP00000509035.1:p.Arg732His
ENST00000690369.1:n.2213G>A
ENST00000690990.1:c.2189G>A	ENSP00000510461.1:p.Arg730His
ENST00000691233.1:c.2192G>A	ENSP00000509215.1:p.Arg731His
ENST00000691345.1:n.696G>A
ENST00000691792.1:c.2195G>A	ENSP00000509911.1:p.Arg732His
ENST00000691959.1:n.2074G>A
ENST00000693052.1:c.2195G>A	ENSP00000509558.1:p.Arg732His
ENST00000693440.1:c.2192G>A	ENSP00000509462.1:p.Arg731His
ENST00000693499.1:n.1840G>A
ENST00000380817.8:c.2195G>A MANE Select	ENSP00000370196.2:p.Arg732His
ENST00000348911.10:c.2198G>A	ENSP00000252027.7:p.Arg733His
ENST00000380817.7:c.2195G>A	ENSP00000370196.2:p.Arg732His
NM_002972.3:c.2195G>A	NP_002963.2:p.Arg732His
XM_005261931.1:c.2198G>A	XP_005261988.1:p.Arg733His
XM_005261935.1:c.2195G>A	XP_005261992.1:p.Arg732His
XM_011530707.1:c.2297G>A	XP_011529009.1:p.Arg766His
XM_011530708.1:c.2249G>A	XP_011529010.1:p.Arg750His
XM_011530709.1:c.2225G>A	XP_011529011.1:p.Arg742His
XM_011530710.1:c.2222G>A	XP_011529012.1:p.Arg741His
XM_011530711.1:c.2300G>A	XP_011529013.1:p.Arg767His
XR_938344.1:n.2315G>A
NM_001365819.1:c.2198G>A	NP_001352748.1:p.Arg733His
XM_005261935.2:c.2195G>A	XP_005261992.1:p.Arg732His
XM_011530709.2:c.2225G>A	XP_011529011.1:p.Arg742His
XM_011530710.2:c.2222G>A	XP_011529012.1:p.Arg741His
XM_017028905.2:c.2225G>A	XP_016884394.1:p.Arg742His
NM_002972.4:c.2195G>A MANE Select	NP_002963.2:p.Arg732His