Canonical Allele Identifier: CA412195417

Gene: SBF1

Linked Data

• dbSNP Id: rs1569510196
• MyVariant Identifiers: chr22:g.50893562G>A (hg19) ; chr22:g.50455133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455133G>A , CM000684.2:g.50455133G>A	GRCh38
NC_000022.10:g.50893562G>A , CM000684.1:g.50893562G>A	GRCh37
NC_000022.9:g.49240428G>A	NCBI36
NG_041810.1:g.24939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4486C>T	ENSP00000252027.8:p.Gln1496Ter
ENST00000418590.4:c.196C>T	ENSP00000401538.2:p.Gln66Ter
ENST00000470434.2:n.967C>T
ENST00000684986.1:c.4567C>T	ENSP00000509117.1:p.Gln1523Ter
ENST00000685180.1:n.2488+5401C>T
ENST00000685390.1:n.2532C>T
ENST00000685411.1:n.314C>T
ENST00000685592.1:c.798C>T
ENST00000685809.1:c.4477C>T	ENSP00000508863.1:p.Gln1493Ter
ENST00000686029.1:c.642C>T
ENST00000686191.1:n.3764C>T
ENST00000686222.1:c.*3986C>T	ENSP00000508737.1:n.*3986C>T
ENST00000686321.1:c.660C>T
ENST00000686427.1:c.*1499C>T	ENSP00000510379.1:n.*1499C>T
ENST00000686758.1:n.2307C>T
ENST00000686801.1:c.4552C>T	ENSP00000509915.1:p.Gln1518Ter
ENST00000686826.1:n.883C>T
ENST00000687016.1:c.4465C>T	ENSP00000509074.1:p.Gln1489Ter
ENST00000687704.1:c.*2289C>T	ENSP00000510454.1:n.*2289C>T
ENST00000688066.1:c.4564C>T	ENSP00000510782.1:p.Gln1522Ter
ENST00000688124.1:c.*3482C>T	ENSP00000510645.1:n.*3482C>T
ENST00000688848.1:c.*3908C>T	ENSP00000509419.1:n.*3908C>T
ENST00000688985.1:c.1565C>T	ENSP00000510477.1:n.1565C>T
ENST00000689129.1:c.4489C>T	ENSP00000510414.1:p.Gln1497Ter
ENST00000689177.1:n.5836C>T
ENST00000689849.1:c.660C>T
ENST00000689981.1:c.4564C>T	ENSP00000509035.1:p.Gln1522Ter
ENST00000690369.1:n.4582C>T
ENST00000690590.1:n.1611C>T
ENST00000690990.1:c.4558C>T	ENSP00000510461.1:p.Gln1520Ter
ENST00000691233.1:c.4483C>T	ENSP00000509215.1:p.Gln1495Ter
ENST00000691306.1:c.662C>T
ENST00000691345.1:n.2302+1083C>T
ENST00000691792.1:c.4555-3C>T	ENSP00000509911.1:n.4555-3C>T
ENST00000691959.1:n.5283C>T
ENST00000692844.1:n.1648C>T
ENST00000692946.1:c.660C>T
ENST00000693052.1:c.4582C>T	ENSP00000509558.1:p.Gln1528Ter
ENST00000693289.1:n.1723C>T
ENST00000693440.1:c.4561C>T	ENSP00000509462.1:p.Gln1521Ter
ENST00000693499.1:n.5489C>T
ENST00000693591.1:n.3301C>T
ENST00000380817.8:c.4564C>T MANE Select	ENSP00000370196.2:p.Gln1522Ter
ENST00000348911.10:c.4489C>T	ENSP00000252027.7:p.Gln1497Ter
ENST00000380817.7:c.4564C>T	ENSP00000370196.2:p.Gln1522Ter
ENST00000418590.3:c.164C>T
ENST00000470434.1:n.705C>T
NM_002972.3:c.4564C>T	NP_002963.2:p.Gln1522Ter
XM_005261931.1:c.4567C>T	XP_005261988.1:p.Gln1523Ter
XM_005261935.1:c.4486C>T	XP_005261992.1:p.Gln1496Ter
XM_011530707.1:c.4666C>T	XP_011529009.1:p.Gln1556Ter
XM_011530708.1:c.4618C>T	XP_011529010.1:p.Gln1540Ter
XM_011530709.1:c.4594C>T	XP_011529011.1:p.Gln1532Ter
XM_011530710.1:c.4591C>T	XP_011529012.1:p.Gln1531Ter
XM_011530711.1:c.4591C>T	XP_011529013.1:p.Gln1531Ter
XR_938344.1:n.4684C>T
NM_001365819.1:c.4489C>T	NP_001352748.1:p.Gln1497Ter
XM_005261935.2:c.4486C>T	XP_005261992.1:p.Gln1496Ter
XM_011530709.2:c.4594C>T	XP_011529011.1:p.Gln1532Ter
XM_011530710.2:c.4591C>T	XP_011529012.1:p.Gln1531Ter
XM_017028905.2:c.4516C>T	XP_016884394.1:p.Gln1506Ter
NM_002972.4:c.4564C>T MANE Select	NP_002963.2:p.Gln1522Ter