Canonical Allele Identifier: CA412195371

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455121-C-T
• MyVariant Identifiers: chr22:g.50893550C>T (hg19) ; chr22:g.50455121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455121C>T , CM000684.2:g.50455121C>T	GRCh38
NC_000022.10:g.50893550C>T , CM000684.1:g.50893550C>T	GRCh37
NC_000022.9:g.49240416C>T	NCBI36
NG_041810.1:g.24951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4498G>A	ENSP00000252027.8:p.Glu1500Lys
ENST00000418590.4:c.208G>A	ENSP00000401538.2:p.Glu70Lys
ENST00000470434.2:n.979G>A
ENST00000684986.1:c.4579G>A	ENSP00000509117.1:p.Glu1527Lys
ENST00000685180.1:n.2488+5413G>A
ENST00000685390.1:n.2544G>A
ENST00000685411.1:n.326G>A
ENST00000685592.1:c.810G>A
ENST00000685809.1:c.4489G>A	ENSP00000508863.1:p.Glu1497Lys
ENST00000686029.1:c.654G>A
ENST00000686191.1:n.3776G>A
ENST00000686222.1:c.*3998G>A	ENSP00000508737.1:n.*3998G>A
ENST00000686321.1:c.672G>A
ENST00000686427.1:c.*1511G>A	ENSP00000510379.1:n.*1511G>A
ENST00000686758.1:n.2319G>A
ENST00000686801.1:c.4564G>A	ENSP00000509915.1:p.Glu1522Lys
ENST00000686826.1:n.895G>A
ENST00000687016.1:c.4477G>A	ENSP00000509074.1:p.Glu1493Lys
ENST00000687704.1:c.*2301G>A	ENSP00000510454.1:n.*2301G>A
ENST00000688066.1:c.4576G>A	ENSP00000510782.1:p.Glu1526Lys
ENST00000688124.1:c.*3494G>A	ENSP00000510645.1:n.*3494G>A
ENST00000688848.1:c.*3920G>A	ENSP00000509419.1:n.*3920G>A
ENST00000688985.1:c.1577G>A	ENSP00000510477.1:n.1577G>A
ENST00000689129.1:c.4501G>A	ENSP00000510414.1:p.Glu1501Lys
ENST00000689177.1:n.5848G>A
ENST00000689849.1:c.672G>A
ENST00000689981.1:c.4576G>A	ENSP00000509035.1:p.Glu1526Lys
ENST00000690369.1:n.4594G>A
ENST00000690590.1:n.1623G>A
ENST00000690990.1:c.4570G>A	ENSP00000510461.1:p.Glu1524Lys
ENST00000691233.1:c.4495G>A	ENSP00000509215.1:p.Glu1499Lys
ENST00000691306.1:c.674G>A
ENST00000691345.1:n.2302+1095G>A
ENST00000691792.1:c.4564G>A	ENSP00000509911.1:p.Glu1522Lys
ENST00000691959.1:n.5295G>A
ENST00000692844.1:n.1660G>A
ENST00000692946.1:c.672G>A
ENST00000693052.1:c.4594G>A	ENSP00000509558.1:p.Glu1532Lys
ENST00000693289.1:n.1735G>A
ENST00000693440.1:c.4573G>A	ENSP00000509462.1:p.Glu1525Lys
ENST00000693499.1:n.5501G>A
ENST00000693591.1:n.3313G>A
ENST00000380817.8:c.4576G>A MANE Select	ENSP00000370196.2:p.Glu1526Lys
ENST00000348911.10:c.4501G>A	ENSP00000252027.7:p.Glu1501Lys
ENST00000380817.7:c.4576G>A	ENSP00000370196.2:p.Glu1526Lys
ENST00000418590.3:c.176G>A
ENST00000470434.1:n.717G>A
NM_002972.3:c.4576G>A	NP_002963.2:p.Glu1526Lys
XM_005261931.1:c.4579G>A	XP_005261988.1:p.Glu1527Lys
XM_005261935.1:c.4498G>A	XP_005261992.1:p.Glu1500Lys
XM_011530707.1:c.4678G>A	XP_011529009.1:p.Glu1560Lys
XM_011530708.1:c.4630G>A	XP_011529010.1:p.Glu1544Lys
XM_011530709.1:c.4606G>A	XP_011529011.1:p.Glu1536Lys
XM_011530710.1:c.4603G>A	XP_011529012.1:p.Glu1535Lys
XM_011530711.1:c.4603G>A	XP_011529013.1:p.Glu1535Lys
XR_938344.1:n.4696G>A
NM_001365819.1:c.4501G>A	NP_001352748.1:p.Glu1501Lys
XM_005261935.2:c.4498G>A	XP_005261992.1:p.Glu1500Lys
XM_011530709.2:c.4606G>A	XP_011529011.1:p.Glu1536Lys
XM_011530710.2:c.4603G>A	XP_011529012.1:p.Glu1535Lys
XM_017028905.2:c.4528G>A	XP_016884394.1:p.Glu1510Lys
NM_002972.4:c.4576G>A MANE Select	NP_002963.2:p.Glu1526Lys