Canonical Allele Identifier: CA412194433

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893504T>G (hg19) ; chr22:g.50455075T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455075T>G , CM000684.2:g.50455075T>G	GRCh38
NC_000022.10:g.50893504T>G , CM000684.1:g.50893504T>G	GRCh37
NC_000022.9:g.49240370T>G	NCBI36
NG_041810.1:g.24997A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4544A>C	ENSP00000252027.8:p.His1515Pro
ENST00000418590.4:c.254A>C	ENSP00000401538.2:p.His85Pro
ENST00000470434.2:n.1025A>C
ENST00000684986.1:c.4625A>C	ENSP00000509117.1:p.His1542Pro
ENST00000685180.1:n.2488+5459A>C
ENST00000685390.1:n.2590A>C
ENST00000685411.1:n.372A>C
ENST00000685592.1:c.856A>C
ENST00000685809.1:c.4535A>C	ENSP00000508863.1:p.His1512Pro
ENST00000686029.1:c.700A>C
ENST00000686191.1:n.3822A>C
ENST00000686222.1:c.*4044A>C	ENSP00000508737.1:n.*4044A>C
ENST00000686321.1:c.718A>C
ENST00000686427.1:c.*1557A>C	ENSP00000510379.1:n.*1557A>C
ENST00000686758.1:n.2365A>C
ENST00000686801.1:c.4610A>C	ENSP00000509915.1:p.His1537Pro
ENST00000686826.1:n.941A>C
ENST00000687016.1:c.4523A>C	ENSP00000509074.1:p.His1508Pro
ENST00000687704.1:c.*2347A>C	ENSP00000510454.1:n.*2347A>C
ENST00000688066.1:c.4622A>C	ENSP00000510782.1:p.His1541Pro
ENST00000688124.1:c.*3540A>C	ENSP00000510645.1:n.*3540A>C
ENST00000688848.1:c.*3966A>C	ENSP00000509419.1:n.*3966A>C
ENST00000688985.1:c.1623A>C	ENSP00000510477.1:n.1623A>C
ENST00000689129.1:c.4547A>C	ENSP00000510414.1:p.His1516Pro
ENST00000689177.1:n.5894A>C
ENST00000689849.1:c.718A>C
ENST00000689981.1:c.4622A>C	ENSP00000509035.1:p.His1541Pro
ENST00000690369.1:n.4640A>C
ENST00000690590.1:n.1669A>C
ENST00000690990.1:c.4616A>C	ENSP00000510461.1:p.His1539Pro
ENST00000691233.1:c.4541A>C	ENSP00000509215.1:p.His1514Pro
ENST00000691306.1:c.720A>C
ENST00000691345.1:n.2302+1141A>C
ENST00000691792.1:c.4610A>C	ENSP00000509911.1:p.His1537Pro
ENST00000691959.1:n.5341A>C
ENST00000692844.1:n.1706A>C
ENST00000692946.1:c.718A>C
ENST00000693052.1:c.4640A>C	ENSP00000509558.1:p.His1547Pro
ENST00000693289.1:n.1781A>C
ENST00000693440.1:c.4619A>C	ENSP00000509462.1:p.His1540Pro
ENST00000693499.1:n.5547A>C
ENST00000693591.1:n.3359A>C
ENST00000380817.8:c.4622A>C MANE Select	ENSP00000370196.2:p.His1541Pro
ENST00000348911.10:c.4547A>C	ENSP00000252027.7:p.His1516Pro
ENST00000380817.7:c.4622A>C	ENSP00000370196.2:p.His1541Pro
ENST00000418590.3:c.222A>C
ENST00000470434.1:n.763A>C
NM_002972.3:c.4622A>C	NP_002963.2:p.His1541Pro
XM_005261931.1:c.4625A>C	XP_005261988.1:p.His1542Pro
XM_005261935.1:c.4544A>C	XP_005261992.1:p.His1515Pro
XM_011530707.1:c.4724A>C	XP_011529009.1:p.His1575Pro
XM_011530708.1:c.4676A>C	XP_011529010.1:p.His1559Pro
XM_011530709.1:c.4652A>C	XP_011529011.1:p.His1551Pro
XM_011530710.1:c.4649A>C	XP_011529012.1:p.His1550Pro
XM_011530711.1:c.4649A>C	XP_011529013.1:p.His1550Pro
XR_938344.1:n.4742A>C
NM_001365819.1:c.4547A>C	NP_001352748.1:p.His1516Pro
XM_005261935.2:c.4544A>C	XP_005261992.1:p.His1515Pro
XM_011530709.2:c.4652A>C	XP_011529011.1:p.His1551Pro
XM_011530710.2:c.4649A>C	XP_011529012.1:p.His1550Pro
XM_017028905.2:c.4574A>C	XP_016884394.1:p.His1525Pro
NM_002972.4:c.4622A>C MANE Select	NP_002963.2:p.His1541Pro