Canonical Allele Identifier: CA515382797

Gene: SBF1

Linked Data

• dbSNP Id: rs200816076
• gnomAD v2: 22-50893473-G-T
• gnomAD v4: 22-50455044-G-T
• MyVariant Identifiers: chr22:g.50893473G>T (hg19) ; chr22:g.50455044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455044G>T , CM000684.2:g.50455044G>T	GRCh38
NC_000022.10:g.50893473G>T , CM000684.1:g.50893473G>T	GRCh37
NC_000022.9:g.49240339G>T	NCBI36
NG_041810.1:g.25028C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4575C>A	ENSP00000252027.8:p.Leu1525=
ENST00000418590.4:c.285C>A	ENSP00000401538.2:p.Leu95=
ENST00000470434.2:n.1056C>A
ENST00000684986.1:c.4656C>A	ENSP00000509117.1:p.Leu1552=
ENST00000685180.1:n.2488+5490C>A
ENST00000685390.1:n.2621C>A
ENST00000685411.1:n.403C>A
ENST00000685592.1:c.887C>A
ENST00000685809.1:c.4566C>A	ENSP00000508863.1:p.Leu1522=
ENST00000686029.1:c.731C>A
ENST00000686191.1:n.3853C>A
ENST00000686222.1:c.*4075C>A	ENSP00000508737.1:n.*4075C>A
ENST00000686321.1:c.749C>A
ENST00000686427.1:c.*1588C>A	ENSP00000510379.1:n.*1588C>A
ENST00000686758.1:n.2396C>A
ENST00000686801.1:c.4641C>A	ENSP00000509915.1:p.Leu1547=
ENST00000686826.1:n.972C>A
ENST00000687016.1:c.4554C>A	ENSP00000509074.1:p.Leu1518=
ENST00000687704.1:c.*2378C>A	ENSP00000510454.1:n.*2378C>A
ENST00000688066.1:c.4653C>A	ENSP00000510782.1:p.Leu1551=
ENST00000688124.1:c.*3571C>A	ENSP00000510645.1:n.*3571C>A
ENST00000688848.1:c.*3997C>A	ENSP00000509419.1:n.*3997C>A
ENST00000688985.1:c.1654C>A	ENSP00000510477.1:n.1654C>A
ENST00000689129.1:c.4578C>A	ENSP00000510414.1:p.Leu1526=
ENST00000689177.1:n.5925C>A
ENST00000689849.1:c.749C>A
ENST00000689981.1:c.4653C>A	ENSP00000509035.1:p.Leu1551=
ENST00000690369.1:n.4671C>A
ENST00000690590.1:n.1700C>A
ENST00000690990.1:c.4647C>A	ENSP00000510461.1:p.Leu1549=
ENST00000691233.1:c.4572C>A	ENSP00000509215.1:p.Leu1524=
ENST00000691306.1:c.751C>A
ENST00000691345.1:n.2302+1172C>A
ENST00000691792.1:c.4641C>A	ENSP00000509911.1:p.Leu1547=
ENST00000691959.1:n.5372C>A
ENST00000692844.1:n.1737C>A
ENST00000692946.1:c.749C>A
ENST00000693052.1:c.4671C>A	ENSP00000509558.1:p.Leu1557=
ENST00000693289.1:n.1812C>A
ENST00000693440.1:c.4650C>A	ENSP00000509462.1:p.Leu1550=
ENST00000693499.1:n.5578C>A
ENST00000693591.1:n.3390C>A
ENST00000380817.8:c.4653C>A MANE Select	ENSP00000370196.2:p.Leu1551=
ENST00000348911.10:c.4578C>A	ENSP00000252027.7:p.Leu1526=
ENST00000380817.7:c.4653C>A	ENSP00000370196.2:p.Leu1551=
ENST00000418590.3:c.253C>A
ENST00000470434.1:n.794C>A
NM_002972.3:c.4653C>A	NP_002963.2:p.Leu1551=
XM_005261931.1:c.4656C>A	XP_005261988.1:p.Leu1552=
XM_005261935.1:c.4575C>A	XP_005261992.1:p.Leu1525=
XM_011530707.1:c.4755C>A	XP_011529009.1:p.Leu1585=
XM_011530708.1:c.4707C>A	XP_011529010.1:p.Leu1569=
XM_011530709.1:c.4683C>A	XP_011529011.1:p.Leu1561=
XM_011530710.1:c.4680C>A	XP_011529012.1:p.Leu1560=
XM_011530711.1:c.4680C>A	XP_011529013.1:p.Leu1560=
XR_938344.1:n.4773C>A
NM_001365819.1:c.4578C>A	NP_001352748.1:p.Leu1526=
XM_005261935.2:c.4575C>A	XP_005261992.1:p.Leu1525=
XM_011530709.2:c.4683C>A	XP_011529011.1:p.Leu1561=
XM_011530710.2:c.4680C>A	XP_011529012.1:p.Leu1560=
XM_017028905.2:c.4605C>A	XP_016884394.1:p.Leu1535=
NM_002972.4:c.4653C>A MANE Select	NP_002963.2:p.Leu1551=