Canonical Allele Identifier: CA412195410

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893560C>G (hg19) ; chr22:g.50455131C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455131C>G , CM000684.2:g.50455131C>G	GRCh38
NC_000022.10:g.50893560C>G , CM000684.1:g.50893560C>G	GRCh37
NC_000022.9:g.49240426C>G	NCBI36
NG_041810.1:g.24941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4488G>C	ENSP00000252027.8:p.Gln1496His
ENST00000418590.4:c.198G>C	ENSP00000401538.2:p.Gln66His
ENST00000470434.2:n.969G>C
ENST00000684986.1:c.4569G>C	ENSP00000509117.1:p.Gln1523His
ENST00000685180.1:n.2488+5403G>C
ENST00000685390.1:n.2534G>C
ENST00000685411.1:n.316G>C
ENST00000685592.1:c.800G>C
ENST00000685809.1:c.4479G>C	ENSP00000508863.1:p.Gln1493His
ENST00000686029.1:c.644G>C
ENST00000686191.1:n.3766G>C
ENST00000686222.1:c.*3988G>C	ENSP00000508737.1:n.*3988G>C
ENST00000686321.1:c.662G>C
ENST00000686427.1:c.*1501G>C	ENSP00000510379.1:n.*1501G>C
ENST00000686758.1:n.2309G>C
ENST00000686801.1:c.4554G>C	ENSP00000509915.1:p.Gln1518His
ENST00000686826.1:n.885G>C
ENST00000687016.1:c.4467G>C	ENSP00000509074.1:p.Gln1489His
ENST00000687704.1:c.*2291G>C	ENSP00000510454.1:n.*2291G>C
ENST00000688066.1:c.4566G>C	ENSP00000510782.1:p.Gln1522His
ENST00000688124.1:c.*3484G>C	ENSP00000510645.1:n.*3484G>C
ENST00000688848.1:c.*3910G>C	ENSP00000509419.1:n.*3910G>C
ENST00000688985.1:c.1567G>C	ENSP00000510477.1:n.1567G>C
ENST00000689129.1:c.4491G>C	ENSP00000510414.1:p.Gln1497His
ENST00000689177.1:n.5838G>C
ENST00000689849.1:c.662G>C
ENST00000689981.1:c.4566G>C	ENSP00000509035.1:p.Gln1522His
ENST00000690369.1:n.4584G>C
ENST00000690590.1:n.1613G>C
ENST00000690990.1:c.4560G>C	ENSP00000510461.1:p.Gln1520His
ENST00000691233.1:c.4485G>C	ENSP00000509215.1:p.Gln1495His
ENST00000691306.1:c.664G>C
ENST00000691345.1:n.2302+1085G>C
ENST00000691792.1:c.4555-1G>C	ENSP00000509911.1:n.4555-1G>C
ENST00000691959.1:n.5285G>C
ENST00000692844.1:n.1650G>C
ENST00000692946.1:c.662G>C
ENST00000693052.1:c.4584G>C	ENSP00000509558.1:p.Gln1528His
ENST00000693289.1:n.1725G>C
ENST00000693440.1:c.4563G>C	ENSP00000509462.1:p.Gln1521His
ENST00000693499.1:n.5491G>C
ENST00000693591.1:n.3303G>C
ENST00000380817.8:c.4566G>C MANE Select	ENSP00000370196.2:p.Gln1522His
ENST00000348911.10:c.4491G>C	ENSP00000252027.7:p.Gln1497His
ENST00000380817.7:c.4566G>C	ENSP00000370196.2:p.Gln1522His
ENST00000418590.3:c.166G>C
ENST00000470434.1:n.707G>C
NM_002972.3:c.4566G>C	NP_002963.2:p.Gln1522His
XM_005261931.1:c.4569G>C	XP_005261988.1:p.Gln1523His
XM_005261935.1:c.4488G>C	XP_005261992.1:p.Gln1496His
XM_011530707.1:c.4668G>C	XP_011529009.1:p.Gln1556His
XM_011530708.1:c.4620G>C	XP_011529010.1:p.Gln1540His
XM_011530709.1:c.4596G>C	XP_011529011.1:p.Gln1532His
XM_011530710.1:c.4593G>C	XP_011529012.1:p.Gln1531His
XM_011530711.1:c.4593G>C	XP_011529013.1:p.Gln1531His
XR_938344.1:n.4686G>C
NM_001365819.1:c.4491G>C	NP_001352748.1:p.Gln1497His
XM_005261935.2:c.4488G>C	XP_005261992.1:p.Gln1496His
XM_011530709.2:c.4596G>C	XP_011529011.1:p.Gln1532His
XM_011530710.2:c.4593G>C	XP_011529012.1:p.Gln1531His
XM_017028905.2:c.4518G>C	XP_016884394.1:p.Gln1506His
NM_002972.4:c.4566G>C MANE Select	NP_002963.2:p.Gln1522His