Canonical Allele Identifier: CA515382861

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455071-C-T
• MyVariant Identifiers: chr22:g.50893500C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455071C>T , CM000684.2:g.50455071C>T	GRCh38
NC_000022.10:g.50893500C>T , CM000684.1:g.50893500C>T	GRCh37
NC_000022.9:g.49240366C>T	NCBI36
NG_041810.1:g.25001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4548G>A	ENSP00000252027.8:p.Val1516=
ENST00000418590.4:c.258G>A	ENSP00000401538.2:p.Val86=
ENST00000470434.2:n.1029G>A
ENST00000684986.1:c.4629G>A	ENSP00000509117.1:p.Val1543=
ENST00000685180.1:n.2488+5463G>A
ENST00000685390.1:n.2594G>A
ENST00000685411.1:n.376G>A
ENST00000685592.1:c.860G>A
ENST00000685809.1:c.4539G>A	ENSP00000508863.1:p.Val1513=
ENST00000686029.1:c.704G>A
ENST00000686191.1:n.3826G>A
ENST00000686222.1:c.*4048G>A	ENSP00000508737.1:n.*4048G>A
ENST00000686321.1:c.722G>A
ENST00000686427.1:c.*1561G>A	ENSP00000510379.1:n.*1561G>A
ENST00000686758.1:n.2369G>A
ENST00000686801.1:c.4614G>A	ENSP00000509915.1:p.Val1538=
ENST00000686826.1:n.945G>A
ENST00000687016.1:c.4527G>A	ENSP00000509074.1:p.Val1509=
ENST00000687704.1:c.*2351G>A	ENSP00000510454.1:n.*2351G>A
ENST00000688066.1:c.4626G>A	ENSP00000510782.1:p.Val1542=
ENST00000688124.1:c.*3544G>A	ENSP00000510645.1:n.*3544G>A
ENST00000688848.1:c.*3970G>A	ENSP00000509419.1:n.*3970G>A
ENST00000688985.1:c.1627G>A	ENSP00000510477.1:n.1627G>A
ENST00000689129.1:c.4551G>A	ENSP00000510414.1:p.Val1517=
ENST00000689177.1:n.5898G>A
ENST00000689849.1:c.722G>A
ENST00000689981.1:c.4626G>A	ENSP00000509035.1:p.Val1542=
ENST00000690369.1:n.4644G>A
ENST00000690590.1:n.1673G>A
ENST00000690990.1:c.4620G>A	ENSP00000510461.1:p.Val1540=
ENST00000691233.1:c.4545G>A	ENSP00000509215.1:p.Val1515=
ENST00000691306.1:c.724G>A
ENST00000691345.1:n.2302+1145G>A
ENST00000691792.1:c.4614G>A	ENSP00000509911.1:p.Val1538=
ENST00000691959.1:n.5345G>A
ENST00000692844.1:n.1710G>A
ENST00000692946.1:c.722G>A
ENST00000693052.1:c.4644G>A	ENSP00000509558.1:p.Val1548=
ENST00000693289.1:n.1785G>A
ENST00000693440.1:c.4623G>A	ENSP00000509462.1:p.Val1541=
ENST00000693499.1:n.5551G>A
ENST00000693591.1:n.3363G>A
ENST00000380817.8:c.4626G>A MANE Select	ENSP00000370196.2:p.Val1542=
ENST00000348911.10:c.4551G>A	ENSP00000252027.7:p.Val1517=
ENST00000380817.7:c.4626G>A	ENSP00000370196.2:p.Val1542=
ENST00000418590.3:c.226G>A
ENST00000470434.1:n.767G>A
NM_002972.3:c.4626G>A	NP_002963.2:p.Val1542=
XM_005261931.1:c.4629G>A	XP_005261988.1:p.Val1543=
XM_005261935.1:c.4548G>A	XP_005261992.1:p.Val1516=
XM_011530707.1:c.4728G>A	XP_011529009.1:p.Val1576=
XM_011530708.1:c.4680G>A	XP_011529010.1:p.Val1560=
XM_011530709.1:c.4656G>A	XP_011529011.1:p.Val1552=
XM_011530710.1:c.4653G>A	XP_011529012.1:p.Val1551=
XM_011530711.1:c.4653G>A	XP_011529013.1:p.Val1551=
XR_938344.1:n.4746G>A
NM_001365819.1:c.4551G>A	NP_001352748.1:p.Val1517=
XM_005261935.2:c.4548G>A	XP_005261992.1:p.Val1516=
XM_011530709.2:c.4656G>A	XP_011529011.1:p.Val1552=
XM_011530710.2:c.4653G>A	XP_011529012.1:p.Val1551=
XM_017028905.2:c.4578G>A	XP_016884394.1:p.Val1526=
NM_002972.4:c.4626G>A MANE Select	NP_002963.2:p.Val1542=