Canonical Allele Identifier: CA10316805

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50460304G>A , CM000684.2:g.50460304G>A	GRCh38
NC_000022.10:g.50898733G>A , CM000684.1:g.50898733G>A	GRCh37
NC_000022.9:g.49245599G>A	NCBI36
NG_041810.1:g.19768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.3251C>T	ENSP00000252027.8:p.Pro1084Leu
ENST00000684986.1:c.3254C>T	ENSP00000509117.1:p.Pro1085Leu
ENST00000685180.1:n.2488+230C>T
ENST00000685386.1:c.1094C>T	ENSP00000510338.1:p.Pro365Leu
ENST00000685390.1:n.1494C>T
ENST00000685809.1:c.3242C>T	ENSP00000508863.1:p.Pro1081Leu
ENST00000686222.1:c.*2673C>T	ENSP00000508737.1:n.*2673C>T
ENST00000686427.1:c.*264C>T	ENSP00000510379.1:n.*264C>T
ENST00000686801.1:c.3239C>T	ENSP00000509915.1:p.Pro1080Leu
ENST00000687016.1:c.3230C>T	ENSP00000509074.1:p.Pro1077Leu
ENST00000687704.1:c.*1065C>T	ENSP00000510454.1:n.*1065C>T
ENST00000688066.1:c.3251C>T	ENSP00000510782.1:p.Pro1084Leu
ENST00000688124.1:c.*2245C>T	ENSP00000510645.1:n.*2245C>T
ENST00000688848.1:c.*2673C>T	ENSP00000509419.1:n.*2673C>T
ENST00000688985.1:c.257C>T	ENSP00000510477.1:p.Pro86Leu
ENST00000689129.1:c.3254C>T	ENSP00000510414.1:p.Pro1085Leu
ENST00000689177.1:n.1102C>T
ENST00000689981.1:c.3251C>T	ENSP00000509035.1:p.Pro1084Leu
ENST00000690369.1:n.3269C>T
ENST00000690590.1:n.13C>T
ENST00000690990.1:c.3245C>T	ENSP00000510461.1:p.Pro1082Leu
ENST00000691233.1:c.3248C>T	ENSP00000509215.1:p.Pro1083Leu
ENST00000691345.1:n.1752C>T
ENST00000691792.1:c.3251C>T	ENSP00000509911.1:p.Pro1084Leu
ENST00000691959.1:n.3130C>T
ENST00000692006.1:c.257C>T	ENSP00000509653.1:p.Pro86Leu
ENST00000692844.1:n.128C>T
ENST00000693052.1:c.3251C>T	ENSP00000509558.1:p.Pro1084Leu
ENST00000693440.1:c.3248C>T	ENSP00000509462.1:p.Pro1083Leu
ENST00000693499.1:n.3342C>T
ENST00000380817.8:c.3251C>T MANE Select	ENSP00000370196.2:p.Pro1084Leu
ENST00000348911.10:c.3254C>T	ENSP00000252027.7:p.Pro1085Leu
ENST00000380817.7:c.3251C>T	ENSP00000370196.2:p.Pro1084Leu
NM_002972.3:c.3251C>T	NP_002963.2:p.Pro1084Leu
XM_005261931.1:c.3254C>T	XP_005261988.1:p.Pro1085Leu
XM_005261935.1:c.3251C>T	XP_005261992.1:p.Pro1084Leu
XM_011530707.1:c.3353C>T	XP_011529009.1:p.Pro1118Leu
XM_011530708.1:c.3305C>T	XP_011529010.1:p.Pro1102Leu
XM_011530709.1:c.3281C>T	XP_011529011.1:p.Pro1094Leu
XM_011530710.1:c.3278C>T	XP_011529012.1:p.Pro1093Leu
XM_011530711.1:c.3356C>T	XP_011529013.1:p.Pro1119Leu
XR_938344.1:n.3371C>T
NM_001365819.1:c.3254C>T	NP_001352748.1:p.Pro1085Leu
XM_005261935.2:c.3251C>T	XP_005261992.1:p.Pro1084Leu
XM_011530709.2:c.3281C>T	XP_011529011.1:p.Pro1094Leu
XM_011530710.2:c.3278C>T	XP_011529012.1:p.Pro1093Leu
XM_017028905.2:c.3281C>T	XP_016884394.1:p.Pro1094Leu
NM_002972.4:c.3251C>T MANE Select	NP_002963.2:p.Pro1084Leu