Canonical Allele Identifier: CA412207718

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50461178A>G , CM000684.2:g.50461178A>G	GRCh38
NC_000022.10:g.50899607A>G , CM000684.1:g.50899607A>G	GRCh37
NC_000022.9:g.49246473A>G	NCBI36
NG_041810.1:g.18894T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.2948T>C MANE Select	NP_002963.2:p.Leu983Pro
ENST00000380817.8:c.2948T>C MANE Select	ENSP00000370196.2:p.Leu983Pro
NM_001365819.1:c.2951T>C	NP_001352748.1:p.Leu984Pro
NM_002972.3:c.2948T>C	NP_002963.2:p.Leu983Pro
ENST00000348911.10:c.2951T>C	ENSP00000252027.7:p.Leu984Pro
ENST00000348911.11:c.2948T>C	ENSP00000252027.8:p.Leu983Pro
ENST00000380817.7:c.2948T>C	ENSP00000370196.2:p.Leu983Pro
ENST00000684986.1:c.2951T>C	ENSP00000509117.1:p.Leu984Pro
ENST00000685180.1:n.2310-466T>C
ENST00000685386.1:c.818T>C	ENSP00000510338.1:p.Leu273Pro
ENST00000685390.1:n.1191T>C
ENST00000685809.1:c.2939T>C	ENSP00000508863.1:p.Leu980Pro
ENST00000686222.1:c.*2370T>C	ENSP00000508737.1:n.*2370T>C
ENST00000686427.1:c.2937T>C	ENSP00000510379.1:p.Ala979=
ENST00000686801.1:c.2936T>C	ENSP00000509915.1:p.Leu979Pro
ENST00000687016.1:c.2927T>C	ENSP00000509074.1:p.Leu976Pro
ENST00000687704.1:c.*762T>C	ENSP00000510454.1:n.*762T>C
ENST00000688030.1:c.757T>C	ENSP00000508668.1:n.757T>C
ENST00000688066.1:c.2948T>C	ENSP00000510782.1:p.Leu983Pro
ENST00000688124.1:c.*1942T>C	ENSP00000510645.1:n.*1942T>C
ENST00000688848.1:c.*2370T>C	ENSP00000509419.1:n.*2370T>C
ENST00000689129.1:c.2951T>C	ENSP00000510414.1:p.Leu984Pro
ENST00000689177.1:n.799T>C
ENST00000689981.1:c.2948T>C	ENSP00000509035.1:p.Leu983Pro
ENST00000690369.1:n.2966T>C
ENST00000690990.1:c.2942T>C	ENSP00000510461.1:p.Leu981Pro
ENST00000691233.1:c.2945T>C	ENSP00000509215.1:p.Leu982Pro
ENST00000691345.1:n.1449T>C
ENST00000691792.1:c.2948T>C	ENSP00000509911.1:p.Leu983Pro
ENST00000691959.1:n.2827T>C
ENST00000693052.1:c.2948T>C	ENSP00000509558.1:p.Leu983Pro
ENST00000693440.1:c.2945T>C	ENSP00000509462.1:p.Leu982Pro
ENST00000693499.1:n.2593T>C
XM_005261931.1:c.2951T>C	XP_005261988.1:p.Leu984Pro
XM_005261935.1:c.2948T>C	XP_005261992.1:p.Leu983Pro
XM_005261935.2:c.2948T>C	XP_005261992.1:p.Leu983Pro
XM_011530707.1:c.3050T>C	XP_011529009.1:p.Leu1017Pro
XM_011530708.1:c.3002T>C	XP_011529010.1:p.Leu1001Pro
XM_011530709.1:c.2978T>C	XP_011529011.1:p.Leu993Pro
XM_011530709.2:c.2978T>C	XP_011529011.1:p.Leu993Pro
XM_011530710.1:c.2975T>C	XP_011529012.1:p.Leu992Pro
XM_011530710.2:c.2975T>C	XP_011529012.1:p.Leu992Pro
XM_011530711.1:c.3053T>C	XP_011529013.1:p.Leu1018Pro
XM_017028905.2:c.2978T>C	XP_016884394.1:p.Leu993Pro
XR_938344.1:n.3068T>C