Canonical Allele Identifier: CA412195375

Gene: SBF1

Linked Data

• dbSNP Id: rs1556420180
• gnomAD v4: 22-50455121-C-A
• MyVariant Identifiers: chr22:g.50893550C>A (hg19) ; chr22:g.50455121C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4498G>T	ENSP00000252027.8:p.Glu1500Ter
ENST00000418590.4:c.208G>T	ENSP00000401538.2:p.Glu70Ter
ENST00000470434.2:n.979G>T
ENST00000684986.1:c.4579G>T	ENSP00000509117.1:p.Glu1527Ter
ENST00000685180.1:n.2488+5413G>T
ENST00000685390.1:n.2544G>T
ENST00000685411.1:n.326G>T
ENST00000685592.1:c.810G>T
ENST00000685809.1:c.4489G>T	ENSP00000508863.1:p.Glu1497Ter
ENST00000686029.1:c.654G>T
ENST00000686191.1:n.3776G>T
ENST00000686222.1:c.*3998G>T	ENSP00000508737.1:n.*3998G>T
ENST00000686321.1:c.672G>T
ENST00000686427.1:c.*1511G>T	ENSP00000510379.1:n.*1511G>T
ENST00000686758.1:n.2319G>T
ENST00000686801.1:c.4564G>T	ENSP00000509915.1:p.Glu1522Ter
ENST00000686826.1:n.895G>T
ENST00000687016.1:c.4477G>T	ENSP00000509074.1:p.Glu1493Ter
ENST00000687704.1:c.*2301G>T	ENSP00000510454.1:n.*2301G>T
ENST00000688066.1:c.4576G>T	ENSP00000510782.1:p.Glu1526Ter
ENST00000688124.1:c.*3494G>T	ENSP00000510645.1:n.*3494G>T
ENST00000688848.1:c.*3920G>T	ENSP00000509419.1:n.*3920G>T
ENST00000688985.1:c.1577G>T	ENSP00000510477.1:n.1577G>T
ENST00000689129.1:c.4501G>T	ENSP00000510414.1:p.Glu1501Ter
ENST00000689177.1:n.5848G>T
ENST00000689849.1:c.672G>T
ENST00000689981.1:c.4576G>T	ENSP00000509035.1:p.Glu1526Ter
ENST00000690369.1:n.4594G>T
ENST00000690590.1:n.1623G>T
ENST00000690990.1:c.4570G>T	ENSP00000510461.1:p.Glu1524Ter
ENST00000691233.1:c.4495G>T	ENSP00000509215.1:p.Glu1499Ter
ENST00000691306.1:c.674G>T
ENST00000691345.1:n.2302+1095G>T
ENST00000691792.1:c.4564G>T	ENSP00000509911.1:p.Glu1522Ter
ENST00000691959.1:n.5295G>T
ENST00000692844.1:n.1660G>T
ENST00000692946.1:c.672G>T
ENST00000693052.1:c.4594G>T	ENSP00000509558.1:p.Glu1532Ter
ENST00000693289.1:n.1735G>T
ENST00000693440.1:c.4573G>T	ENSP00000509462.1:p.Glu1525Ter
ENST00000693499.1:n.5501G>T
ENST00000693591.1:n.3313G>T
ENST00000380817.8:c.4576G>T MANE Select	ENSP00000370196.2:p.Glu1526Ter
ENST00000348911.10:c.4501G>T	ENSP00000252027.7:p.Glu1501Ter
ENST00000380817.7:c.4576G>T	ENSP00000370196.2:p.Glu1526Ter
ENST00000418590.3:c.176G>T
ENST00000470434.1:n.717G>T
NM_002972.3:c.4576G>T	NP_002963.2:p.Glu1526Ter
XM_005261931.1:c.4579G>T	XP_005261988.1:p.Glu1527Ter
XM_005261935.1:c.4498G>T	XP_005261992.1:p.Glu1500Ter
XM_011530707.1:c.4678G>T	XP_011529009.1:p.Glu1560Ter
XM_011530708.1:c.4630G>T	XP_011529010.1:p.Glu1544Ter
XM_011530709.1:c.4606G>T	XP_011529011.1:p.Glu1536Ter
XM_011530710.1:c.4603G>T	XP_011529012.1:p.Glu1535Ter
XM_011530711.1:c.4603G>T	XP_011529013.1:p.Glu1535Ter
XR_938344.1:n.4696G>T
NM_001365819.1:c.4501G>T	NP_001352748.1:p.Glu1501Ter
XM_005261935.2:c.4498G>T	XP_005261992.1:p.Glu1500Ter
XM_011530709.2:c.4606G>T	XP_011529011.1:p.Glu1536Ter
XM_011530710.2:c.4603G>T	XP_011529012.1:p.Glu1535Ter
XM_017028905.2:c.4528G>T	XP_016884394.1:p.Glu1510Ter
NM_002972.4:c.4576G>T MANE Select	NP_002963.2:p.Glu1526Ter