Canonical Allele Identifier: CA412195295

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893529A>C (hg19) ; chr22:g.50455100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455100A>C , CM000684.2:g.50455100A>C	GRCh38
NC_000022.10:g.50893529A>C , CM000684.1:g.50893529A>C	GRCh37
NC_000022.9:g.49240395A>C	NCBI36
NG_041810.1:g.24972T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4519T>G	ENSP00000252027.8:p.Tyr1507Asp
ENST00000418590.4:c.229T>G	ENSP00000401538.2:p.Tyr77Asp
ENST00000470434.2:n.1000T>G
ENST00000684986.1:c.4600T>G	ENSP00000509117.1:p.Tyr1534Asp
ENST00000685180.1:n.2488+5434T>G
ENST00000685390.1:n.2565T>G
ENST00000685411.1:n.347T>G
ENST00000685592.1:c.831T>G
ENST00000685809.1:c.4510T>G	ENSP00000508863.1:p.Tyr1504Asp
ENST00000686029.1:c.675T>G
ENST00000686191.1:n.3797T>G
ENST00000686222.1:c.*4019T>G	ENSP00000508737.1:n.*4019T>G
ENST00000686321.1:c.693T>G
ENST00000686427.1:c.*1532T>G	ENSP00000510379.1:n.*1532T>G
ENST00000686758.1:n.2340T>G
ENST00000686801.1:c.4585T>G	ENSP00000509915.1:p.Tyr1529Asp
ENST00000686826.1:n.916T>G
ENST00000687016.1:c.4498T>G	ENSP00000509074.1:p.Tyr1500Asp
ENST00000687704.1:c.*2322T>G	ENSP00000510454.1:n.*2322T>G
ENST00000688066.1:c.4597T>G	ENSP00000510782.1:p.Tyr1533Asp
ENST00000688124.1:c.*3515T>G	ENSP00000510645.1:n.*3515T>G
ENST00000688848.1:c.*3941T>G	ENSP00000509419.1:n.*3941T>G
ENST00000688985.1:c.1598T>G	ENSP00000510477.1:n.1598T>G
ENST00000689129.1:c.4522T>G	ENSP00000510414.1:p.Tyr1508Asp
ENST00000689177.1:n.5869T>G
ENST00000689849.1:c.693T>G
ENST00000689981.1:c.4597T>G	ENSP00000509035.1:p.Tyr1533Asp
ENST00000690369.1:n.4615T>G
ENST00000690590.1:n.1644T>G
ENST00000690990.1:c.4591T>G	ENSP00000510461.1:p.Tyr1531Asp
ENST00000691233.1:c.4516T>G	ENSP00000509215.1:p.Tyr1506Asp
ENST00000691306.1:c.695T>G
ENST00000691345.1:n.2302+1116T>G
ENST00000691792.1:c.4585T>G	ENSP00000509911.1:p.Tyr1529Asp
ENST00000691959.1:n.5316T>G
ENST00000692844.1:n.1681T>G
ENST00000692946.1:c.693T>G
ENST00000693052.1:c.4615T>G	ENSP00000509558.1:p.Tyr1539Asp
ENST00000693289.1:n.1756T>G
ENST00000693440.1:c.4594T>G	ENSP00000509462.1:p.Tyr1532Asp
ENST00000693499.1:n.5522T>G
ENST00000693591.1:n.3334T>G
ENST00000380817.8:c.4597T>G MANE Select	ENSP00000370196.2:p.Tyr1533Asp
ENST00000348911.10:c.4522T>G	ENSP00000252027.7:p.Tyr1508Asp
ENST00000380817.7:c.4597T>G	ENSP00000370196.2:p.Tyr1533Asp
ENST00000418590.3:c.197T>G
ENST00000470434.1:n.738T>G
NM_002972.3:c.4597T>G	NP_002963.2:p.Tyr1533Asp
XM_005261931.1:c.4600T>G	XP_005261988.1:p.Tyr1534Asp
XM_005261935.1:c.4519T>G	XP_005261992.1:p.Tyr1507Asp
XM_011530707.1:c.4699T>G	XP_011529009.1:p.Tyr1567Asp
XM_011530708.1:c.4651T>G	XP_011529010.1:p.Tyr1551Asp
XM_011530709.1:c.4627T>G	XP_011529011.1:p.Tyr1543Asp
XM_011530710.1:c.4624T>G	XP_011529012.1:p.Tyr1542Asp
XM_011530711.1:c.4624T>G	XP_011529013.1:p.Tyr1542Asp
XR_938344.1:n.4717T>G
NM_001365819.1:c.4522T>G	NP_001352748.1:p.Tyr1508Asp
XM_005261935.2:c.4519T>G	XP_005261992.1:p.Tyr1507Asp
XM_011530709.2:c.4627T>G	XP_011529011.1:p.Tyr1543Asp
XM_011530710.2:c.4624T>G	XP_011529012.1:p.Tyr1542Asp
XM_017028905.2:c.4549T>G	XP_016884394.1:p.Tyr1517Asp
NM_002972.4:c.4597T>G MANE Select	NP_002963.2:p.Tyr1533Asp