Canonical Allele Identifier: CA412195297

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893530G>C (hg19) ; chr22:g.50455101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455101G>C , CM000684.2:g.50455101G>C	GRCh38
NC_000022.10:g.50893530G>C , CM000684.1:g.50893530G>C	GRCh37
NC_000022.9:g.49240396G>C	NCBI36
NG_041810.1:g.24971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4518C>G	ENSP00000252027.8:p.Phe1506Leu
ENST00000418590.4:c.228C>G	ENSP00000401538.2:p.Phe76Leu
ENST00000470434.2:n.999C>G
ENST00000684986.1:c.4599C>G	ENSP00000509117.1:p.Phe1533Leu
ENST00000685180.1:n.2488+5433C>G
ENST00000685390.1:n.2564C>G
ENST00000685411.1:n.346C>G
ENST00000685592.1:c.830C>G
ENST00000685809.1:c.4509C>G	ENSP00000508863.1:p.Phe1503Leu
ENST00000686029.1:c.674C>G
ENST00000686191.1:n.3796C>G
ENST00000686222.1:c.*4018C>G	ENSP00000508737.1:n.*4018C>G
ENST00000686321.1:c.692C>G
ENST00000686427.1:c.*1531C>G	ENSP00000510379.1:n.*1531C>G
ENST00000686758.1:n.2339C>G
ENST00000686801.1:c.4584C>G	ENSP00000509915.1:p.Phe1528Leu
ENST00000686826.1:n.915C>G
ENST00000687016.1:c.4497C>G	ENSP00000509074.1:p.Phe1499Leu
ENST00000687704.1:c.*2321C>G	ENSP00000510454.1:n.*2321C>G
ENST00000688066.1:c.4596C>G	ENSP00000510782.1:p.Phe1532Leu
ENST00000688124.1:c.*3514C>G	ENSP00000510645.1:n.*3514C>G
ENST00000688848.1:c.*3940C>G	ENSP00000509419.1:n.*3940C>G
ENST00000688985.1:c.1597C>G	ENSP00000510477.1:n.1597C>G
ENST00000689129.1:c.4521C>G	ENSP00000510414.1:p.Phe1507Leu
ENST00000689177.1:n.5868C>G
ENST00000689849.1:c.692C>G
ENST00000689981.1:c.4596C>G	ENSP00000509035.1:p.Phe1532Leu
ENST00000690369.1:n.4614C>G
ENST00000690590.1:n.1643C>G
ENST00000690990.1:c.4590C>G	ENSP00000510461.1:p.Phe1530Leu
ENST00000691233.1:c.4515C>G	ENSP00000509215.1:p.Phe1505Leu
ENST00000691306.1:c.694C>G
ENST00000691345.1:n.2302+1115C>G
ENST00000691792.1:c.4584C>G	ENSP00000509911.1:p.Phe1528Leu
ENST00000691959.1:n.5315C>G
ENST00000692844.1:n.1680C>G
ENST00000692946.1:c.692C>G
ENST00000693052.1:c.4614C>G	ENSP00000509558.1:p.Phe1538Leu
ENST00000693289.1:n.1755C>G
ENST00000693440.1:c.4593C>G	ENSP00000509462.1:p.Phe1531Leu
ENST00000693499.1:n.5521C>G
ENST00000693591.1:n.3333C>G
ENST00000380817.8:c.4596C>G MANE Select	ENSP00000370196.2:p.Phe1532Leu
ENST00000348911.10:c.4521C>G	ENSP00000252027.7:p.Phe1507Leu
ENST00000380817.7:c.4596C>G	ENSP00000370196.2:p.Phe1532Leu
ENST00000418590.3:c.196C>G
ENST00000470434.1:n.737C>G
NM_002972.3:c.4596C>G	NP_002963.2:p.Phe1532Leu
XM_005261931.1:c.4599C>G	XP_005261988.1:p.Phe1533Leu
XM_005261935.1:c.4518C>G	XP_005261992.1:p.Phe1506Leu
XM_011530707.1:c.4698C>G	XP_011529009.1:p.Phe1566Leu
XM_011530708.1:c.4650C>G	XP_011529010.1:p.Phe1550Leu
XM_011530709.1:c.4626C>G	XP_011529011.1:p.Phe1542Leu
XM_011530710.1:c.4623C>G	XP_011529012.1:p.Phe1541Leu
XM_011530711.1:c.4623C>G	XP_011529013.1:p.Phe1541Leu
XR_938344.1:n.4716C>G
NM_001365819.1:c.4521C>G	NP_001352748.1:p.Phe1507Leu
XM_005261935.2:c.4518C>G	XP_005261992.1:p.Phe1506Leu
XM_011530709.2:c.4626C>G	XP_011529011.1:p.Phe1542Leu
XM_011530710.2:c.4623C>G	XP_011529012.1:p.Phe1541Leu
XM_017028905.2:c.4548C>G	XP_016884394.1:p.Phe1516Leu
NM_002972.4:c.4596C>G MANE Select	NP_002963.2:p.Phe1532Leu