Canonical Allele Identifier: CA412195352

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893545A>C (hg19) ; chr22:g.50455116A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455116A>C , CM000684.2:g.50455116A>C	GRCh38
NC_000022.10:g.50893545A>C , CM000684.1:g.50893545A>C	GRCh37
NC_000022.9:g.49240411A>C	NCBI36
NG_041810.1:g.24956T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4503T>G	ENSP00000252027.8:p.Phe1501Leu
ENST00000418590.4:c.213T>G	ENSP00000401538.2:p.Phe71Leu
ENST00000470434.2:n.984T>G
ENST00000684986.1:c.4584T>G	ENSP00000509117.1:p.Phe1528Leu
ENST00000685180.1:n.2488+5418T>G
ENST00000685390.1:n.2549T>G
ENST00000685411.1:n.331T>G
ENST00000685592.1:c.815T>G
ENST00000685809.1:c.4494T>G	ENSP00000508863.1:p.Phe1498Leu
ENST00000686029.1:c.659T>G
ENST00000686191.1:n.3781T>G
ENST00000686222.1:c.*4003T>G	ENSP00000508737.1:n.*4003T>G
ENST00000686321.1:c.677T>G
ENST00000686427.1:c.*1516T>G	ENSP00000510379.1:n.*1516T>G
ENST00000686758.1:n.2324T>G
ENST00000686801.1:c.4569T>G	ENSP00000509915.1:p.Phe1523Leu
ENST00000686826.1:n.900T>G
ENST00000687016.1:c.4482T>G	ENSP00000509074.1:p.Phe1494Leu
ENST00000687704.1:c.*2306T>G	ENSP00000510454.1:n.*2306T>G
ENST00000688066.1:c.4581T>G	ENSP00000510782.1:p.Phe1527Leu
ENST00000688124.1:c.*3499T>G	ENSP00000510645.1:n.*3499T>G
ENST00000688848.1:c.*3925T>G	ENSP00000509419.1:n.*3925T>G
ENST00000688985.1:c.1582T>G	ENSP00000510477.1:n.1582T>G
ENST00000689129.1:c.4506T>G	ENSP00000510414.1:p.Phe1502Leu
ENST00000689177.1:n.5853T>G
ENST00000689849.1:c.677T>G
ENST00000689981.1:c.4581T>G	ENSP00000509035.1:p.Phe1527Leu
ENST00000690369.1:n.4599T>G
ENST00000690590.1:n.1628T>G
ENST00000690990.1:c.4575T>G	ENSP00000510461.1:p.Phe1525Leu
ENST00000691233.1:c.4500T>G	ENSP00000509215.1:p.Phe1500Leu
ENST00000691306.1:c.679T>G
ENST00000691345.1:n.2302+1100T>G
ENST00000691792.1:c.4569T>G	ENSP00000509911.1:p.Phe1523Leu
ENST00000691959.1:n.5300T>G
ENST00000692844.1:n.1665T>G
ENST00000692946.1:c.677T>G
ENST00000693052.1:c.4599T>G	ENSP00000509558.1:p.Phe1533Leu
ENST00000693289.1:n.1740T>G
ENST00000693440.1:c.4578T>G	ENSP00000509462.1:p.Phe1526Leu
ENST00000693499.1:n.5506T>G
ENST00000693591.1:n.3318T>G
ENST00000380817.8:c.4581T>G MANE Select	ENSP00000370196.2:p.Phe1527Leu
ENST00000348911.10:c.4506T>G	ENSP00000252027.7:p.Phe1502Leu
ENST00000380817.7:c.4581T>G	ENSP00000370196.2:p.Phe1527Leu
ENST00000418590.3:c.181T>G
ENST00000470434.1:n.722T>G
NM_002972.3:c.4581T>G	NP_002963.2:p.Phe1527Leu
XM_005261931.1:c.4584T>G	XP_005261988.1:p.Phe1528Leu
XM_005261935.1:c.4503T>G	XP_005261992.1:p.Phe1501Leu
XM_011530707.1:c.4683T>G	XP_011529009.1:p.Phe1561Leu
XM_011530708.1:c.4635T>G	XP_011529010.1:p.Phe1545Leu
XM_011530709.1:c.4611T>G	XP_011529011.1:p.Phe1537Leu
XM_011530710.1:c.4608T>G	XP_011529012.1:p.Phe1536Leu
XM_011530711.1:c.4608T>G	XP_011529013.1:p.Phe1536Leu
XR_938344.1:n.4701T>G
NM_001365819.1:c.4506T>G	NP_001352748.1:p.Phe1502Leu
XM_005261935.2:c.4503T>G	XP_005261992.1:p.Phe1501Leu
XM_011530709.2:c.4611T>G	XP_011529011.1:p.Phe1537Leu
XM_011530710.2:c.4608T>G	XP_011529012.1:p.Phe1536Leu
XM_017028905.2:c.4533T>G	XP_016884394.1:p.Phe1511Leu
NM_002972.4:c.4581T>G MANE Select	NP_002963.2:p.Phe1527Leu