Canonical Allele Identifier: CA10317078

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50461650C>G , CM000684.2:g.50461650C>G	GRCh38
NC_000022.10:g.50900079C>G , CM000684.1:g.50900079C>G	GRCh37
NC_000022.9:g.49246945C>G	NCBI36
NG_041810.1:g.18422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.2712G>C	ENSP00000252027.8:p.Leu904=
ENST00000684986.1:c.2715G>C	ENSP00000509117.1:p.Leu905=
ENST00000685180.1:n.2309+297G>C
ENST00000685386.1:c.582G>C	ENSP00000510338.1:p.Leu194=
ENST00000685390.1:n.955G>C
ENST00000685809.1:c.2703G>C	ENSP00000508863.1:p.Leu901=
ENST00000686222.1:c.*2134G>C	ENSP00000508737.1:n.*2134G>C
ENST00000686427.1:c.2712G>C	ENSP00000510379.1:p.Leu904=
ENST00000686801.1:c.2700G>C	ENSP00000509915.1:p.Leu900=
ENST00000687016.1:c.2691G>C	ENSP00000509074.1:p.Leu897=
ENST00000687704.1:c.*526G>C	ENSP00000510454.1:n.*526G>C
ENST00000688030.1:c.521G>C	ENSP00000508668.1:p.Cys174Ser
ENST00000688066.1:c.2712G>C	ENSP00000510782.1:p.Leu904=
ENST00000688124.1:c.*1706G>C	ENSP00000510645.1:n.*1706G>C
ENST00000688848.1:c.*2134G>C	ENSP00000509419.1:n.*2134G>C
ENST00000689129.1:c.2715G>C	ENSP00000510414.1:p.Leu905=
ENST00000689177.1:n.563G>C
ENST00000689981.1:c.2712G>C	ENSP00000509035.1:p.Leu904=
ENST00000690369.1:n.2730G>C
ENST00000690990.1:c.2706G>C	ENSP00000510461.1:p.Leu902=
ENST00000691233.1:c.2709G>C	ENSP00000509215.1:p.Leu903=
ENST00000691345.1:n.1213G>C
ENST00000691792.1:c.2712G>C	ENSP00000509911.1:p.Leu904=
ENST00000691959.1:n.2591G>C
ENST00000693052.1:c.2712G>C	ENSP00000509558.1:p.Leu904=
ENST00000693440.1:c.2709G>C	ENSP00000509462.1:p.Leu903=
ENST00000693499.1:n.2357G>C
ENST00000380817.8:c.2712G>C MANE Select	ENSP00000370196.2:p.Leu904=
ENST00000348911.10:c.2715G>C	ENSP00000252027.7:p.Leu905=
ENST00000380817.7:c.2712G>C	ENSP00000370196.2:p.Leu904=
NM_002972.3:c.2712G>C	NP_002963.2:p.Leu904=
XM_005261931.1:c.2715G>C	XP_005261988.1:p.Leu905=
XM_005261935.1:c.2712G>C	XP_005261992.1:p.Leu904=
XM_011530707.1:c.2814G>C	XP_011529009.1:p.Leu938=
XM_011530708.1:c.2766G>C	XP_011529010.1:p.Leu922=
XM_011530709.1:c.2742G>C	XP_011529011.1:p.Leu914=
XM_011530710.1:c.2739G>C	XP_011529012.1:p.Leu913=
XM_011530711.1:c.2817G>C	XP_011529013.1:p.Leu939=
XR_938344.1:n.2832G>C
NM_001365819.1:c.2715G>C	NP_001352748.1:p.Leu905=
XM_005261935.2:c.2712G>C	XP_005261992.1:p.Leu904=
XM_011530709.2:c.2742G>C	XP_011529011.1:p.Leu914=
XM_011530710.2:c.2739G>C	XP_011529012.1:p.Leu913=
XM_017028905.2:c.2742G>C	XP_016884394.1:p.Leu914=
NM_002972.4:c.2712G>C MANE Select	NP_002963.2:p.Leu904=