Canonical Allele Identifier: CA412195445

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893570A>G (hg19) ; chr22:g.50455141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455141A>G , CM000684.2:g.50455141A>G	GRCh38
NC_000022.10:g.50893570A>G , CM000684.1:g.50893570A>G	GRCh37
NC_000022.9:g.49240436A>G	NCBI36
NG_041810.1:g.24931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4478T>C	ENSP00000252027.8:p.Val1493Ala
ENST00000418590.4:c.188T>C	ENSP00000401538.2:p.Val63Ala
ENST00000470434.2:n.959T>C
ENST00000684986.1:c.4559T>C	ENSP00000509117.1:p.Val1520Ala
ENST00000685180.1:n.2488+5393T>C
ENST00000685390.1:n.2524T>C
ENST00000685411.1:n.306T>C
ENST00000685592.1:c.790T>C
ENST00000685809.1:c.4469T>C	ENSP00000508863.1:p.Val1490Ala
ENST00000686029.1:c.634T>C
ENST00000686191.1:n.3756T>C
ENST00000686222.1:c.*3978T>C	ENSP00000508737.1:n.*3978T>C
ENST00000686321.1:c.652T>C
ENST00000686427.1:c.*1491T>C	ENSP00000510379.1:n.*1491T>C
ENST00000686758.1:n.2299T>C
ENST00000686801.1:c.4544T>C	ENSP00000509915.1:p.Val1515Ala
ENST00000686826.1:n.875T>C
ENST00000687016.1:c.4457T>C	ENSP00000509074.1:p.Val1486Ala
ENST00000687704.1:c.*2281T>C	ENSP00000510454.1:n.*2281T>C
ENST00000688066.1:c.4556T>C	ENSP00000510782.1:p.Val1519Ala
ENST00000688124.1:c.*3474T>C	ENSP00000510645.1:n.*3474T>C
ENST00000688848.1:c.*3900T>C	ENSP00000509419.1:n.*3900T>C
ENST00000688985.1:c.1557T>C	ENSP00000510477.1:n.1557T>C
ENST00000689129.1:c.4481T>C	ENSP00000510414.1:p.Val1494Ala
ENST00000689177.1:n.5828T>C
ENST00000689849.1:c.652T>C
ENST00000689981.1:c.4556T>C	ENSP00000509035.1:p.Val1519Ala
ENST00000690369.1:n.4574T>C
ENST00000690590.1:n.1603T>C
ENST00000690990.1:c.4550T>C	ENSP00000510461.1:p.Val1517Ala
ENST00000691233.1:c.4475T>C	ENSP00000509215.1:p.Val1492Ala
ENST00000691306.1:c.654T>C
ENST00000691345.1:n.2302+1075T>C
ENST00000691792.1:c.4555-11T>C	ENSP00000509911.1:n.4555-11T>C
ENST00000691959.1:n.5275T>C
ENST00000692844.1:n.1640T>C
ENST00000692946.1:c.652T>C
ENST00000693052.1:c.4574T>C	ENSP00000509558.1:p.Val1525Ala
ENST00000693289.1:n.1715T>C
ENST00000693440.1:c.4553T>C	ENSP00000509462.1:p.Val1518Ala
ENST00000693499.1:n.5481T>C
ENST00000693591.1:n.3293T>C
ENST00000380817.8:c.4556T>C MANE Select	ENSP00000370196.2:p.Val1519Ala
ENST00000348911.10:c.4481T>C	ENSP00000252027.7:p.Val1494Ala
ENST00000380817.7:c.4556T>C	ENSP00000370196.2:p.Val1519Ala
ENST00000418590.3:c.156T>C
ENST00000470434.1:n.697T>C
NM_002972.3:c.4556T>C	NP_002963.2:p.Val1519Ala
XM_005261931.1:c.4559T>C	XP_005261988.1:p.Val1520Ala
XM_005261935.1:c.4478T>C	XP_005261992.1:p.Val1493Ala
XM_011530707.1:c.4658T>C	XP_011529009.1:p.Val1553Ala
XM_011530708.1:c.4610T>C	XP_011529010.1:p.Val1537Ala
XM_011530709.1:c.4586T>C	XP_011529011.1:p.Val1529Ala
XM_011530710.1:c.4583T>C	XP_011529012.1:p.Val1528Ala
XM_011530711.1:c.4583T>C	XP_011529013.1:p.Val1528Ala
XR_938344.1:n.4676T>C
NM_001365819.1:c.4481T>C	NP_001352748.1:p.Val1494Ala
XM_005261935.2:c.4478T>C	XP_005261992.1:p.Val1493Ala
XM_011530709.2:c.4586T>C	XP_011529011.1:p.Val1529Ala
XM_011530710.2:c.4583T>C	XP_011529012.1:p.Val1528Ala
XM_017028905.2:c.4508T>C	XP_016884394.1:p.Val1503Ala
NM_002972.4:c.4556T>C MANE Select	NP_002963.2:p.Val1519Ala