Canonical Allele Identifier: CA412208889

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50461945A>G , CM000684.2:g.50461945A>G	GRCh38
NC_000022.10:g.50900374A>G , CM000684.1:g.50900374A>G	GRCh37
NC_000022.9:g.49247240A>G	NCBI36
NG_041810.1:g.18127T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.2569+2T>C MANE Select	NP_002963.2:n.2569+2T>C
ENST00000380817.8:c.2569+2T>C MANE Select	ENSP00000370196.2:n.2569+2T>C
NM_001365819.1:c.2572+2T>C	NP_001352748.1:n.2572+2T>C
NM_002972.3:c.2569+2T>C	NP_002963.2:n.2569+2T>C
ENST00000348911.10:c.2572+2T>C	ENSP00000252027.7:n.2572+2T>C
ENST00000348911.11:c.2569+2T>C	ENSP00000252027.8:n.2569+2T>C
ENST00000380817.7:c.2569+2T>C	ENSP00000370196.2:n.2569+2T>C
ENST00000684986.1:c.2572+2T>C	ENSP00000509117.1:n.2572+2T>C
ENST00000685180.1:n.2309+2T>C
ENST00000685386.1:c.439+2T>C	ENSP00000510338.1:n.439+2T>C
ENST00000685390.1:n.812+2T>C
ENST00000685809.1:c.2560+2T>C	ENSP00000508863.1:n.2560+2T>C
ENST00000686222.1:c.*1991+2T>C	ENSP00000508737.1:n.*1991+2T>C
ENST00000686427.1:c.2569+2T>C	ENSP00000510379.1:n.2569+2T>C
ENST00000686801.1:c.2557+2T>C	ENSP00000509915.1:n.2557+2T>C
ENST00000687016.1:c.2548+2T>C	ENSP00000509074.1:n.2548+2T>C
ENST00000687704.1:c.*383+2T>C	ENSP00000510454.1:n.*383+2T>C
ENST00000688030.1:c.378+63T>C	ENSP00000508668.1:n.378+63T>C
ENST00000688066.1:c.2569+2T>C	ENSP00000510782.1:n.2569+2T>C
ENST00000688124.1:c.*1563+2T>C	ENSP00000510645.1:n.*1563+2T>C
ENST00000688848.1:c.*1991+2T>C	ENSP00000509419.1:n.*1991+2T>C
ENST00000689129.1:c.2572+2T>C	ENSP00000510414.1:n.2572+2T>C
ENST00000689177.1:n.345T>C
ENST00000689981.1:c.2569+2T>C	ENSP00000509035.1:n.2569+2T>C
ENST00000690369.1:n.2587+2T>C
ENST00000690990.1:c.2563+2T>C	ENSP00000510461.1:n.2563+2T>C
ENST00000691233.1:c.2566+2T>C	ENSP00000509215.1:n.2566+2T>C
ENST00000691345.1:n.1070+2T>C
ENST00000691792.1:c.2569+2T>C	ENSP00000509911.1:n.2569+2T>C
ENST00000691959.1:n.2448+2T>C
ENST00000693052.1:c.2569+2T>C	ENSP00000509558.1:n.2569+2T>C
ENST00000693440.1:c.2566+2T>C	ENSP00000509462.1:n.2566+2T>C
ENST00000693499.1:n.2214+2T>C
XM_005261931.1:c.2572+2T>C	XP_005261988.1:n.2572+2T>C
XM_005261935.1:c.2569+2T>C	XP_005261992.1:n.2569+2T>C
XM_005261935.2:c.2569+2T>C	XP_005261992.1:n.2569+2T>C
XM_011530707.1:c.2671+2T>C	XP_011529009.1:n.2671+2T>C
XM_011530708.1:c.2623+2T>C	XP_011529010.1:n.2623+2T>C
XM_011530709.1:c.2599+2T>C	XP_011529011.1:n.2599+2T>C
XM_011530709.2:c.2599+2T>C	XP_011529011.1:n.2599+2T>C
XM_011530710.1:c.2596+2T>C	XP_011529012.1:n.2596+2T>C
XM_011530710.2:c.2596+2T>C	XP_011529012.1:n.2596+2T>C
XM_011530711.1:c.2674+2T>C	XP_011529013.1:n.2674+2T>C
XM_017028905.2:c.2599+2T>C	XP_016884394.1:n.2599+2T>C
XR_938344.1:n.2689+2T>C