Canonical Allele Identifier: CA515382848

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455068-G-A
• MyVariant Identifiers: chr22:g.50893497G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455068G>A , CM000684.2:g.50455068G>A	GRCh38
NC_000022.10:g.50893497G>A , CM000684.1:g.50893497G>A	GRCh37
NC_000022.9:g.49240363G>A	NCBI36
NG_041810.1:g.25004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4551C>T	ENSP00000252027.8:p.Ser1517=
ENST00000418590.4:c.261C>T	ENSP00000401538.2:p.Ser87=
ENST00000470434.2:n.1032C>T
ENST00000684986.1:c.4632C>T	ENSP00000509117.1:p.Ser1544=
ENST00000685180.1:n.2488+5466C>T
ENST00000685390.1:n.2597C>T
ENST00000685411.1:n.379C>T
ENST00000685592.1:c.863C>T
ENST00000685809.1:c.4542C>T	ENSP00000508863.1:p.Ser1514=
ENST00000686029.1:c.707C>T
ENST00000686191.1:n.3829C>T
ENST00000686222.1:c.*4051C>T	ENSP00000508737.1:n.*4051C>T
ENST00000686321.1:c.725C>T
ENST00000686427.1:c.*1564C>T	ENSP00000510379.1:n.*1564C>T
ENST00000686758.1:n.2372C>T
ENST00000686801.1:c.4617C>T	ENSP00000509915.1:p.Ser1539=
ENST00000686826.1:n.948C>T
ENST00000687016.1:c.4530C>T	ENSP00000509074.1:p.Ser1510=
ENST00000687704.1:c.*2354C>T	ENSP00000510454.1:n.*2354C>T
ENST00000688066.1:c.4629C>T	ENSP00000510782.1:p.Ser1543=
ENST00000688124.1:c.*3547C>T	ENSP00000510645.1:n.*3547C>T
ENST00000688848.1:c.*3973C>T	ENSP00000509419.1:n.*3973C>T
ENST00000688985.1:c.1630C>T	ENSP00000510477.1:n.1630C>T
ENST00000689129.1:c.4554C>T	ENSP00000510414.1:p.Ser1518=
ENST00000689177.1:n.5901C>T
ENST00000689849.1:c.725C>T
ENST00000689981.1:c.4629C>T	ENSP00000509035.1:p.Ser1543=
ENST00000690369.1:n.4647C>T
ENST00000690590.1:n.1676C>T
ENST00000690990.1:c.4623C>T	ENSP00000510461.1:p.Ser1541=
ENST00000691233.1:c.4548C>T	ENSP00000509215.1:p.Ser1516=
ENST00000691306.1:c.727C>T
ENST00000691345.1:n.2302+1148C>T
ENST00000691792.1:c.4617C>T	ENSP00000509911.1:p.Ser1539=
ENST00000691959.1:n.5348C>T
ENST00000692844.1:n.1713C>T
ENST00000692946.1:c.725C>T
ENST00000693052.1:c.4647C>T	ENSP00000509558.1:p.Ser1549=
ENST00000693289.1:n.1788C>T
ENST00000693440.1:c.4626C>T	ENSP00000509462.1:p.Ser1542=
ENST00000693499.1:n.5554C>T
ENST00000693591.1:n.3366C>T
ENST00000380817.8:c.4629C>T MANE Select	ENSP00000370196.2:p.Ser1543=
ENST00000348911.10:c.4554C>T	ENSP00000252027.7:p.Ser1518=
ENST00000380817.7:c.4629C>T	ENSP00000370196.2:p.Ser1543=
ENST00000418590.3:c.229C>T
ENST00000470434.1:n.770C>T
NM_002972.3:c.4629C>T	NP_002963.2:p.Ser1543=
XM_005261931.1:c.4632C>T	XP_005261988.1:p.Ser1544=
XM_005261935.1:c.4551C>T	XP_005261992.1:p.Ser1517=
XM_011530707.1:c.4731C>T	XP_011529009.1:p.Ser1577=
XM_011530708.1:c.4683C>T	XP_011529010.1:p.Ser1561=
XM_011530709.1:c.4659C>T	XP_011529011.1:p.Ser1553=
XM_011530710.1:c.4656C>T	XP_011529012.1:p.Ser1552=
XM_011530711.1:c.4656C>T	XP_011529013.1:p.Ser1552=
XR_938344.1:n.4749C>T
NM_001365819.1:c.4554C>T	NP_001352748.1:p.Ser1518=
XM_005261935.2:c.4551C>T	XP_005261992.1:p.Ser1517=
XM_011530709.2:c.4659C>T	XP_011529011.1:p.Ser1553=
XM_011530710.2:c.4656C>T	XP_011529012.1:p.Ser1552=
XM_017028905.2:c.4581C>T	XP_016884394.1:p.Ser1527=
NM_002972.4:c.4629C>T MANE Select	NP_002963.2:p.Ser1543=