Canonical Allele Identifier: CA412194587

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893516A>C (hg19) ; chr22:g.50455087A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455087A>C , CM000684.2:g.50455087A>C	GRCh38
NC_000022.10:g.50893516A>C , CM000684.1:g.50893516A>C	GRCh37
NC_000022.9:g.49240382A>C	NCBI36
NG_041810.1:g.24985T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4532T>G	ENSP00000252027.8:p.Leu1511Arg
ENST00000418590.4:c.242T>G	ENSP00000401538.2:p.Leu81Arg
ENST00000470434.2:n.1013T>G
ENST00000684986.1:c.4613T>G	ENSP00000509117.1:p.Leu1538Arg
ENST00000685180.1:n.2488+5447T>G
ENST00000685390.1:n.2578T>G
ENST00000685411.1:n.360T>G
ENST00000685592.1:c.844T>G
ENST00000685809.1:c.4523T>G	ENSP00000508863.1:p.Leu1508Arg
ENST00000686029.1:c.688T>G
ENST00000686191.1:n.3810T>G
ENST00000686222.1:c.*4032T>G	ENSP00000508737.1:n.*4032T>G
ENST00000686321.1:c.706T>G
ENST00000686427.1:c.*1545T>G	ENSP00000510379.1:n.*1545T>G
ENST00000686758.1:n.2353T>G
ENST00000686801.1:c.4598T>G	ENSP00000509915.1:p.Leu1533Arg
ENST00000686826.1:n.929T>G
ENST00000687016.1:c.4511T>G	ENSP00000509074.1:p.Leu1504Arg
ENST00000687704.1:c.*2335T>G	ENSP00000510454.1:n.*2335T>G
ENST00000688066.1:c.4610T>G	ENSP00000510782.1:p.Leu1537Arg
ENST00000688124.1:c.*3528T>G	ENSP00000510645.1:n.*3528T>G
ENST00000688848.1:c.*3954T>G	ENSP00000509419.1:n.*3954T>G
ENST00000688985.1:c.1611T>G	ENSP00000510477.1:n.1611T>G
ENST00000689129.1:c.4535T>G	ENSP00000510414.1:p.Leu1512Arg
ENST00000689177.1:n.5882T>G
ENST00000689849.1:c.706T>G
ENST00000689981.1:c.4610T>G	ENSP00000509035.1:p.Leu1537Arg
ENST00000690369.1:n.4628T>G
ENST00000690590.1:n.1657T>G
ENST00000690990.1:c.4604T>G	ENSP00000510461.1:p.Leu1535Arg
ENST00000691233.1:c.4529T>G	ENSP00000509215.1:p.Leu1510Arg
ENST00000691306.1:c.708T>G
ENST00000691345.1:n.2302+1129T>G
ENST00000691792.1:c.4598T>G	ENSP00000509911.1:p.Leu1533Arg
ENST00000691959.1:n.5329T>G
ENST00000692844.1:n.1694T>G
ENST00000692946.1:c.706T>G
ENST00000693052.1:c.4628T>G	ENSP00000509558.1:p.Leu1543Arg
ENST00000693289.1:n.1769T>G
ENST00000693440.1:c.4607T>G	ENSP00000509462.1:p.Leu1536Arg
ENST00000693499.1:n.5535T>G
ENST00000693591.1:n.3347T>G
ENST00000380817.8:c.4610T>G MANE Select	ENSP00000370196.2:p.Leu1537Arg
ENST00000348911.10:c.4535T>G	ENSP00000252027.7:p.Leu1512Arg
ENST00000380817.7:c.4610T>G	ENSP00000370196.2:p.Leu1537Arg
ENST00000418590.3:c.210T>G
ENST00000470434.1:n.751T>G
NM_002972.3:c.4610T>G	NP_002963.2:p.Leu1537Arg
XM_005261931.1:c.4613T>G	XP_005261988.1:p.Leu1538Arg
XM_005261935.1:c.4532T>G	XP_005261992.1:p.Leu1511Arg
XM_011530707.1:c.4712T>G	XP_011529009.1:p.Leu1571Arg
XM_011530708.1:c.4664T>G	XP_011529010.1:p.Leu1555Arg
XM_011530709.1:c.4640T>G	XP_011529011.1:p.Leu1547Arg
XM_011530710.1:c.4637T>G	XP_011529012.1:p.Leu1546Arg
XM_011530711.1:c.4637T>G	XP_011529013.1:p.Leu1546Arg
XR_938344.1:n.4730T>G
NM_001365819.1:c.4535T>G	NP_001352748.1:p.Leu1512Arg
XM_005261935.2:c.4532T>G	XP_005261992.1:p.Leu1511Arg
XM_011530709.2:c.4640T>G	XP_011529011.1:p.Leu1547Arg
XM_011530710.2:c.4637T>G	XP_011529012.1:p.Leu1546Arg
XM_017028905.2:c.4562T>G	XP_016884394.1:p.Leu1521Arg
NM_002972.4:c.4610T>G MANE Select	NP_002963.2:p.Leu1537Arg