Canonical Allele Identifier: CA412198509

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50456242G>C , CM000684.2:g.50456242G>C	GRCh38
NC_000022.10:g.50894671G>C , CM000684.1:g.50894671G>C	GRCh37
NC_000022.9:g.49241537G>C	NCBI36
NG_041810.1:g.23830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4162C>G	ENSP00000252027.8:p.Leu1388Val
ENST00000470434.2:n.562C>G
ENST00000684986.1:c.4243C>G	ENSP00000509117.1:p.Leu1415Val
ENST00000685180.1:n.2488+4292C>G
ENST00000685390.1:n.2208C>G
ENST00000685592.1:c.474C>G
ENST00000685809.1:c.4153C>G	ENSP00000508863.1:p.Leu1385Val
ENST00000686029.1:c.336C>G
ENST00000686191.1:n.3440C>G
ENST00000686222.1:c.*3662C>G	ENSP00000508737.1:n.*3662C>G
ENST00000686321.1:c.336C>G
ENST00000686427.1:c.*1175C>G	ENSP00000510379.1:n.*1175C>G
ENST00000686758.1:n.1902C>G
ENST00000686801.1:c.4228C>G	ENSP00000509915.1:p.Leu1410Val
ENST00000686826.1:n.557C>G
ENST00000687016.1:c.4141C>G	ENSP00000509074.1:p.Leu1381Val
ENST00000687704.1:c.*1965C>G	ENSP00000510454.1:n.*1965C>G
ENST00000688066.1:c.4240C>G	ENSP00000510782.1:p.Leu1414Val
ENST00000688124.1:c.*3156C>G	ENSP00000510645.1:n.*3156C>G
ENST00000688848.1:c.*3584C>G	ENSP00000509419.1:n.*3584C>G
ENST00000688985.1:c.1241C>G	ENSP00000510477.1:n.1241C>G
ENST00000689129.1:c.4165C>G	ENSP00000510414.1:p.Leu1389Val
ENST00000689177.1:n.4879C>G
ENST00000689849.1:c.336C>G
ENST00000689981.1:c.4240C>G	ENSP00000509035.1:p.Leu1414Val
ENST00000690369.1:n.4258C>G
ENST00000690590.1:n.1287C>G
ENST00000690990.1:c.4234C>G	ENSP00000510461.1:p.Leu1412Val
ENST00000691233.1:c.4159C>G	ENSP00000509215.1:p.Leu1387Val
ENST00000691306.1:c.336C>G
ENST00000691345.1:n.2276C>G
ENST00000691792.1:c.4240C>G	ENSP00000509911.1:p.Leu1414Val
ENST00000691959.1:n.4326C>G
ENST00000692844.1:n.1324C>G
ENST00000692946.1:c.336C>G
ENST00000693052.1:c.4258C>G	ENSP00000509558.1:p.Leu1420Val
ENST00000693289.1:n.1399C>G
ENST00000693440.1:c.4237C>G	ENSP00000509462.1:p.Leu1413Val
ENST00000693499.1:n.5165C>G
ENST00000693591.1:n.2344C>G
ENST00000380817.8:c.4240C>G MANE Select	ENSP00000370196.2:p.Leu1414Val
ENST00000348911.10:c.4165C>G	ENSP00000252027.7:p.Leu1389Val
ENST00000380817.7:c.4240C>G	ENSP00000370196.2:p.Leu1414Val
NM_002972.3:c.4240C>G	NP_002963.2:p.Leu1414Val
XM_005261931.1:c.4243C>G	XP_005261988.1:p.Leu1415Val
XM_005261935.1:c.4162C>G	XP_005261992.1:p.Leu1388Val
XM_011530707.1:c.4342C>G	XP_011529009.1:p.Leu1448Val
XM_011530708.1:c.4294C>G	XP_011529010.1:p.Leu1432Val
XM_011530709.1:c.4270C>G	XP_011529011.1:p.Leu1424Val
XM_011530710.1:c.4267C>G	XP_011529012.1:p.Leu1423Val
XM_011530711.1:c.4267C>G	XP_011529013.1:p.Leu1423Val
XR_938344.1:n.4360C>G
NM_001365819.1:c.4165C>G	NP_001352748.1:p.Leu1389Val
XM_005261935.2:c.4162C>G	XP_005261992.1:p.Leu1388Val
XM_011530709.2:c.4270C>G	XP_011529011.1:p.Leu1424Val
XM_011530710.2:c.4267C>G	XP_011529012.1:p.Leu1423Val
XM_017028905.2:c.4192C>G	XP_016884394.1:p.Leu1398Val
NM_002972.4:c.4240C>G MANE Select	NP_002963.2:p.Leu1414Val