Canonical Allele Identifier: CA412195302

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893531A>G (hg19) ; chr22:g.50455102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455102A>G , CM000684.2:g.50455102A>G	GRCh38
NC_000022.10:g.50893531A>G , CM000684.1:g.50893531A>G	GRCh37
NC_000022.9:g.49240397A>G	NCBI36
NG_041810.1:g.24970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4517T>C	ENSP00000252027.8:p.Phe1506Ser
ENST00000418590.4:c.227T>C	ENSP00000401538.2:p.Phe76Ser
ENST00000470434.2:n.998T>C
ENST00000684986.1:c.4598T>C	ENSP00000509117.1:p.Phe1533Ser
ENST00000685180.1:n.2488+5432T>C
ENST00000685390.1:n.2563T>C
ENST00000685411.1:n.345T>C
ENST00000685592.1:c.829T>C
ENST00000685809.1:c.4508T>C	ENSP00000508863.1:p.Phe1503Ser
ENST00000686029.1:c.673T>C
ENST00000686191.1:n.3795T>C
ENST00000686222.1:c.*4017T>C	ENSP00000508737.1:n.*4017T>C
ENST00000686321.1:c.691T>C
ENST00000686427.1:c.*1530T>C	ENSP00000510379.1:n.*1530T>C
ENST00000686758.1:n.2338T>C
ENST00000686801.1:c.4583T>C	ENSP00000509915.1:p.Phe1528Ser
ENST00000686826.1:n.914T>C
ENST00000687016.1:c.4496T>C	ENSP00000509074.1:p.Phe1499Ser
ENST00000687704.1:c.*2320T>C	ENSP00000510454.1:n.*2320T>C
ENST00000688066.1:c.4595T>C	ENSP00000510782.1:p.Phe1532Ser
ENST00000688124.1:c.*3513T>C	ENSP00000510645.1:n.*3513T>C
ENST00000688848.1:c.*3939T>C	ENSP00000509419.1:n.*3939T>C
ENST00000688985.1:c.1596T>C	ENSP00000510477.1:n.1596T>C
ENST00000689129.1:c.4520T>C	ENSP00000510414.1:p.Phe1507Ser
ENST00000689177.1:n.5867T>C
ENST00000689849.1:c.691T>C
ENST00000689981.1:c.4595T>C	ENSP00000509035.1:p.Phe1532Ser
ENST00000690369.1:n.4613T>C
ENST00000690590.1:n.1642T>C
ENST00000690990.1:c.4589T>C	ENSP00000510461.1:p.Phe1530Ser
ENST00000691233.1:c.4514T>C	ENSP00000509215.1:p.Phe1505Ser
ENST00000691306.1:c.693T>C
ENST00000691345.1:n.2302+1114T>C
ENST00000691792.1:c.4583T>C	ENSP00000509911.1:p.Phe1528Ser
ENST00000691959.1:n.5314T>C
ENST00000692844.1:n.1679T>C
ENST00000692946.1:c.691T>C
ENST00000693052.1:c.4613T>C	ENSP00000509558.1:p.Phe1538Ser
ENST00000693289.1:n.1754T>C
ENST00000693440.1:c.4592T>C	ENSP00000509462.1:p.Phe1531Ser
ENST00000693499.1:n.5520T>C
ENST00000693591.1:n.3332T>C
ENST00000380817.8:c.4595T>C MANE Select	ENSP00000370196.2:p.Phe1532Ser
ENST00000348911.10:c.4520T>C	ENSP00000252027.7:p.Phe1507Ser
ENST00000380817.7:c.4595T>C	ENSP00000370196.2:p.Phe1532Ser
ENST00000418590.3:c.195T>C
ENST00000470434.1:n.736T>C
NM_002972.3:c.4595T>C	NP_002963.2:p.Phe1532Ser
XM_005261931.1:c.4598T>C	XP_005261988.1:p.Phe1533Ser
XM_005261935.1:c.4517T>C	XP_005261992.1:p.Phe1506Ser
XM_011530707.1:c.4697T>C	XP_011529009.1:p.Phe1566Ser
XM_011530708.1:c.4649T>C	XP_011529010.1:p.Phe1550Ser
XM_011530709.1:c.4625T>C	XP_011529011.1:p.Phe1542Ser
XM_011530710.1:c.4622T>C	XP_011529012.1:p.Phe1541Ser
XM_011530711.1:c.4622T>C	XP_011529013.1:p.Phe1541Ser
XR_938344.1:n.4715T>C
NM_001365819.1:c.4520T>C	NP_001352748.1:p.Phe1507Ser
XM_005261935.2:c.4517T>C	XP_005261992.1:p.Phe1506Ser
XM_011530709.2:c.4625T>C	XP_011529011.1:p.Phe1542Ser
XM_011530710.2:c.4622T>C	XP_011529012.1:p.Phe1541Ser
XM_017028905.2:c.4547T>C	XP_016884394.1:p.Phe1516Ser
NM_002972.4:c.4595T>C MANE Select	NP_002963.2:p.Phe1532Ser