Canonical Allele Identifier: CA412195366

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455120-T-A
• MyVariant Identifiers: chr22:g.50893549T>A (hg19) ; chr22:g.50455120T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455120T>A , CM000684.2:g.50455120T>A	GRCh38
NC_000022.10:g.50893549T>A , CM000684.1:g.50893549T>A	GRCh37
NC_000022.9:g.49240415T>A	NCBI36
NG_041810.1:g.24952A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4499A>T	ENSP00000252027.8:p.Glu1500Val
ENST00000418590.4:c.209A>T	ENSP00000401538.2:p.Glu70Val
ENST00000470434.2:n.980A>T
ENST00000684986.1:c.4580A>T	ENSP00000509117.1:p.Glu1527Val
ENST00000685180.1:n.2488+5414A>T
ENST00000685390.1:n.2545A>T
ENST00000685411.1:n.327A>T
ENST00000685592.1:c.811A>T
ENST00000685809.1:c.4490A>T	ENSP00000508863.1:p.Glu1497Val
ENST00000686029.1:c.655A>T
ENST00000686191.1:n.3777A>T
ENST00000686222.1:c.*3999A>T	ENSP00000508737.1:n.*3999A>T
ENST00000686321.1:c.673A>T
ENST00000686427.1:c.*1512A>T	ENSP00000510379.1:n.*1512A>T
ENST00000686758.1:n.2320A>T
ENST00000686801.1:c.4565A>T	ENSP00000509915.1:p.Glu1522Val
ENST00000686826.1:n.896A>T
ENST00000687016.1:c.4478A>T	ENSP00000509074.1:p.Glu1493Val
ENST00000687704.1:c.*2302A>T	ENSP00000510454.1:n.*2302A>T
ENST00000688066.1:c.4577A>T	ENSP00000510782.1:p.Glu1526Val
ENST00000688124.1:c.*3495A>T	ENSP00000510645.1:n.*3495A>T
ENST00000688848.1:c.*3921A>T	ENSP00000509419.1:n.*3921A>T
ENST00000688985.1:c.1578A>T	ENSP00000510477.1:n.1578A>T
ENST00000689129.1:c.4502A>T	ENSP00000510414.1:p.Glu1501Val
ENST00000689177.1:n.5849A>T
ENST00000689849.1:c.673A>T
ENST00000689981.1:c.4577A>T	ENSP00000509035.1:p.Glu1526Val
ENST00000690369.1:n.4595A>T
ENST00000690590.1:n.1624A>T
ENST00000690990.1:c.4571A>T	ENSP00000510461.1:p.Glu1524Val
ENST00000691233.1:c.4496A>T	ENSP00000509215.1:p.Glu1499Val
ENST00000691306.1:c.675A>T
ENST00000691345.1:n.2302+1096A>T
ENST00000691792.1:c.4565A>T	ENSP00000509911.1:p.Glu1522Val
ENST00000691959.1:n.5296A>T
ENST00000692844.1:n.1661A>T
ENST00000692946.1:c.673A>T
ENST00000693052.1:c.4595A>T	ENSP00000509558.1:p.Glu1532Val
ENST00000693289.1:n.1736A>T
ENST00000693440.1:c.4574A>T	ENSP00000509462.1:p.Glu1525Val
ENST00000693499.1:n.5502A>T
ENST00000693591.1:n.3314A>T
ENST00000380817.8:c.4577A>T MANE Select	ENSP00000370196.2:p.Glu1526Val
ENST00000348911.10:c.4502A>T	ENSP00000252027.7:p.Glu1501Val
ENST00000380817.7:c.4577A>T	ENSP00000370196.2:p.Glu1526Val
ENST00000418590.3:c.177A>T
ENST00000470434.1:n.718A>T
NM_002972.3:c.4577A>T	NP_002963.2:p.Glu1526Val
XM_005261931.1:c.4580A>T	XP_005261988.1:p.Glu1527Val
XM_005261935.1:c.4499A>T	XP_005261992.1:p.Glu1500Val
XM_011530707.1:c.4679A>T	XP_011529009.1:p.Glu1560Val
XM_011530708.1:c.4631A>T	XP_011529010.1:p.Glu1544Val
XM_011530709.1:c.4607A>T	XP_011529011.1:p.Glu1536Val
XM_011530710.1:c.4604A>T	XP_011529012.1:p.Glu1535Val
XM_011530711.1:c.4604A>T	XP_011529013.1:p.Glu1535Val
XR_938344.1:n.4697A>T
NM_001365819.1:c.4502A>T	NP_001352748.1:p.Glu1501Val
XM_005261935.2:c.4499A>T	XP_005261992.1:p.Glu1500Val
XM_011530709.2:c.4607A>T	XP_011529011.1:p.Glu1536Val
XM_011530710.2:c.4604A>T	XP_011529012.1:p.Glu1535Val
XM_017028905.2:c.4529A>T	XP_016884394.1:p.Glu1510Val
NM_002972.4:c.4577A>T MANE Select	NP_002963.2:p.Glu1526Val