Canonical Allele Identifier: CA412195364

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893548C>G (hg19) ; chr22:g.50455119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455119C>G , CM000684.2:g.50455119C>G	GRCh38
NC_000022.10:g.50893548C>G , CM000684.1:g.50893548C>G	GRCh37
NC_000022.9:g.49240414C>G	NCBI36
NG_041810.1:g.24953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4500G>C	ENSP00000252027.8:p.Glu1500Asp
ENST00000418590.4:c.210G>C	ENSP00000401538.2:p.Glu70Asp
ENST00000470434.2:n.981G>C
ENST00000684986.1:c.4581G>C	ENSP00000509117.1:p.Glu1527Asp
ENST00000685180.1:n.2488+5415G>C
ENST00000685390.1:n.2546G>C
ENST00000685411.1:n.328G>C
ENST00000685592.1:c.812G>C
ENST00000685809.1:c.4491G>C	ENSP00000508863.1:p.Glu1497Asp
ENST00000686029.1:c.656G>C
ENST00000686191.1:n.3778G>C
ENST00000686222.1:c.*4000G>C	ENSP00000508737.1:n.*4000G>C
ENST00000686321.1:c.674G>C
ENST00000686427.1:c.*1513G>C	ENSP00000510379.1:n.*1513G>C
ENST00000686758.1:n.2321G>C
ENST00000686801.1:c.4566G>C	ENSP00000509915.1:p.Glu1522Asp
ENST00000686826.1:n.897G>C
ENST00000687016.1:c.4479G>C	ENSP00000509074.1:p.Glu1493Asp
ENST00000687704.1:c.*2303G>C	ENSP00000510454.1:n.*2303G>C
ENST00000688066.1:c.4578G>C	ENSP00000510782.1:p.Glu1526Asp
ENST00000688124.1:c.*3496G>C	ENSP00000510645.1:n.*3496G>C
ENST00000688848.1:c.*3922G>C	ENSP00000509419.1:n.*3922G>C
ENST00000688985.1:c.1579G>C	ENSP00000510477.1:n.1579G>C
ENST00000689129.1:c.4503G>C	ENSP00000510414.1:p.Glu1501Asp
ENST00000689177.1:n.5850G>C
ENST00000689849.1:c.674G>C
ENST00000689981.1:c.4578G>C	ENSP00000509035.1:p.Glu1526Asp
ENST00000690369.1:n.4596G>C
ENST00000690590.1:n.1625G>C
ENST00000690990.1:c.4572G>C	ENSP00000510461.1:p.Glu1524Asp
ENST00000691233.1:c.4497G>C	ENSP00000509215.1:p.Glu1499Asp
ENST00000691306.1:c.676G>C
ENST00000691345.1:n.2302+1097G>C
ENST00000691792.1:c.4566G>C	ENSP00000509911.1:p.Glu1522Asp
ENST00000691959.1:n.5297G>C
ENST00000692844.1:n.1662G>C
ENST00000692946.1:c.674G>C
ENST00000693052.1:c.4596G>C	ENSP00000509558.1:p.Glu1532Asp
ENST00000693289.1:n.1737G>C
ENST00000693440.1:c.4575G>C	ENSP00000509462.1:p.Glu1525Asp
ENST00000693499.1:n.5503G>C
ENST00000693591.1:n.3315G>C
ENST00000380817.8:c.4578G>C MANE Select	ENSP00000370196.2:p.Glu1526Asp
ENST00000348911.10:c.4503G>C	ENSP00000252027.7:p.Glu1501Asp
ENST00000380817.7:c.4578G>C	ENSP00000370196.2:p.Glu1526Asp
ENST00000418590.3:c.178G>C
ENST00000470434.1:n.719G>C
NM_002972.3:c.4578G>C	NP_002963.2:p.Glu1526Asp
XM_005261931.1:c.4581G>C	XP_005261988.1:p.Glu1527Asp
XM_005261935.1:c.4500G>C	XP_005261992.1:p.Glu1500Asp
XM_011530707.1:c.4680G>C	XP_011529009.1:p.Glu1560Asp
XM_011530708.1:c.4632G>C	XP_011529010.1:p.Glu1544Asp
XM_011530709.1:c.4608G>C	XP_011529011.1:p.Glu1536Asp
XM_011530710.1:c.4605G>C	XP_011529012.1:p.Glu1535Asp
XM_011530711.1:c.4605G>C	XP_011529013.1:p.Glu1535Asp
XR_938344.1:n.4698G>C
NM_001365819.1:c.4503G>C	NP_001352748.1:p.Glu1501Asp
XM_005261935.2:c.4500G>C	XP_005261992.1:p.Glu1500Asp
XM_011530709.2:c.4608G>C	XP_011529011.1:p.Glu1536Asp
XM_011530710.2:c.4605G>C	XP_011529012.1:p.Glu1535Asp
XM_017028905.2:c.4530G>C	XP_016884394.1:p.Glu1510Asp
NM_002972.4:c.4578G>C MANE Select	NP_002963.2:p.Glu1526Asp