Canonical Allele Identifier: CA412194068

Gene: SBF1

Linked Data

• dbSNP Id: rs1346719775
• gnomAD v3: 22-50455035-G-T
• gnomAD v4: 22-50455035-G-T
• MyVariant Identifiers: chr22:g.50893464G>T (hg19) ; chr22:g.50455035G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455035G>T , CM000684.2:g.50455035G>T	GRCh38
NC_000022.10:g.50893464G>T , CM000684.1:g.50893464G>T	GRCh37
NC_000022.9:g.49240330G>T	NCBI36
NG_041810.1:g.25037C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4584C>A	ENSP00000252027.8:p.Asp1528Glu
ENST00000418590.4:c.294C>A	ENSP00000401538.2:p.Asp98Glu
ENST00000470434.2:n.1065C>A
ENST00000684986.1:c.4665C>A	ENSP00000509117.1:p.Asp1555Glu
ENST00000685180.1:n.2488+5499C>A
ENST00000685390.1:n.2630C>A
ENST00000685411.1:n.412C>A
ENST00000685592.1:c.896C>A
ENST00000685809.1:c.4575C>A	ENSP00000508863.1:p.Asp1525Glu
ENST00000686029.1:c.740C>A
ENST00000686191.1:n.3862C>A
ENST00000686222.1:c.*4084C>A	ENSP00000508737.1:n.*4084C>A
ENST00000686321.1:c.758C>A
ENST00000686427.1:c.*1597C>A	ENSP00000510379.1:n.*1597C>A
ENST00000686758.1:n.2405C>A
ENST00000686801.1:c.4650C>A	ENSP00000509915.1:p.Asp1550Glu
ENST00000686826.1:n.981C>A
ENST00000687016.1:c.4563C>A	ENSP00000509074.1:p.Asp1521Glu
ENST00000687704.1:c.*2387C>A	ENSP00000510454.1:n.*2387C>A
ENST00000688066.1:c.4662C>A	ENSP00000510782.1:p.Asp1554Glu
ENST00000688124.1:c.*3580C>A	ENSP00000510645.1:n.*3580C>A
ENST00000688848.1:c.*4006C>A	ENSP00000509419.1:n.*4006C>A
ENST00000688985.1:c.1663C>A	ENSP00000510477.1:n.1663C>A
ENST00000689129.1:c.4587C>A	ENSP00000510414.1:p.Asp1529Glu
ENST00000689177.1:n.5934C>A
ENST00000689849.1:c.758C>A
ENST00000689981.1:c.4662C>A	ENSP00000509035.1:p.Asp1554Glu
ENST00000690369.1:n.4680C>A
ENST00000690590.1:n.1709C>A
ENST00000690990.1:c.4656C>A	ENSP00000510461.1:p.Asp1552Glu
ENST00000691233.1:c.4581C>A	ENSP00000509215.1:p.Asp1527Glu
ENST00000691306.1:c.760C>A
ENST00000691345.1:n.2302+1181C>A
ENST00000691792.1:c.4650C>A	ENSP00000509911.1:p.Asp1550Glu
ENST00000691959.1:n.5381C>A
ENST00000692844.1:n.1746C>A
ENST00000692946.1:c.758C>A
ENST00000693052.1:c.4680C>A	ENSP00000509558.1:p.Asp1560Glu
ENST00000693289.1:n.1821C>A
ENST00000693440.1:c.4659C>A	ENSP00000509462.1:p.Asp1553Glu
ENST00000693499.1:n.5587C>A
ENST00000693591.1:n.3399C>A
ENST00000380817.8:c.4662C>A MANE Select	ENSP00000370196.2:p.Asp1554Glu
ENST00000348911.10:c.4587C>A	ENSP00000252027.7:p.Asp1529Glu
ENST00000380817.7:c.4662C>A	ENSP00000370196.2:p.Asp1554Glu
ENST00000418590.3:c.262C>A
ENST00000470434.1:n.803C>A
NM_002972.3:c.4662C>A	NP_002963.2:p.Asp1554Glu
XM_005261931.1:c.4665C>A	XP_005261988.1:p.Asp1555Glu
XM_005261935.1:c.4584C>A	XP_005261992.1:p.Asp1528Glu
XM_011530707.1:c.4764C>A	XP_011529009.1:p.Asp1588Glu
XM_011530708.1:c.4716C>A	XP_011529010.1:p.Asp1572Glu
XM_011530709.1:c.4692C>A	XP_011529011.1:p.Asp1564Glu
XM_011530710.1:c.4689C>A	XP_011529012.1:p.Asp1563Glu
XM_011530711.1:c.4689C>A	XP_011529013.1:p.Asp1563Glu
XR_938344.1:n.4782C>A
NM_001365819.1:c.4587C>A	NP_001352748.1:p.Asp1529Glu
XM_005261935.2:c.4584C>A	XP_005261992.1:p.Asp1528Glu
XM_011530709.2:c.4692C>A	XP_011529011.1:p.Asp1564Glu
XM_011530710.2:c.4689C>A	XP_011529012.1:p.Asp1563Glu
XM_017028905.2:c.4614C>A	XP_016884394.1:p.Asp1538Glu
NM_002972.4:c.4662C>A MANE Select	NP_002963.2:p.Asp1554Glu