Canonical Allele Identifier: CA412192732

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893161G>C (hg19) ; chr22:g.50454732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454732G>C , CM000684.2:g.50454732G>C	GRCh38
NC_000022.10:g.50893161G>C , CM000684.1:g.50893161G>C	GRCh37
NC_000022.9:g.49240027G>C	NCBI36
NG_041810.1:g.25340C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4745C>G	ENSP00000252027.8:p.Pro1582Arg
ENST00000418590.4:c.445-26C>G	ENSP00000401538.2:n.445-26C>G
ENST00000470434.2:n.1226C>G
ENST00000684986.1:c.4826C>G	ENSP00000509117.1:p.Pro1609Arg
ENST00000685180.1:n.2488+5802C>G
ENST00000685390.1:n.2781-7C>G
ENST00000685411.1:n.573C>G
ENST00000685592.1:c.1057C>G
ENST00000685809.1:c.4736C>G	ENSP00000508863.1:p.Pro1579Arg
ENST00000686191.1:n.4023C>G
ENST00000686222.1:c.*4245C>G	ENSP00000508737.1:n.*4245C>G
ENST00000686321.1:c.919C>G
ENST00000686427.1:c.*1758C>G	ENSP00000510379.1:n.*1758C>G
ENST00000686758.1:n.2637C>G
ENST00000686801.1:c.4811C>G	ENSP00000509915.1:p.Pro1604Arg
ENST00000686826.1:n.1142C>G
ENST00000687016.1:c.4724C>G	ENSP00000509074.1:p.Pro1575Arg
ENST00000687704.1:c.*2619C>G	ENSP00000510454.1:n.*2619C>G
ENST00000688066.1:c.4823C>G	ENSP00000510782.1:p.Pro1608Arg
ENST00000688124.1:c.*3731-7C>G	ENSP00000510645.1:n.*3731-7C>G
ENST00000688848.1:c.*4167C>G	ENSP00000509419.1:n.*4167C>G
ENST00000688985.1:c.1824C>G	ENSP00000510477.1:n.1824C>G
ENST00000689129.1:c.4748C>G	ENSP00000510414.1:p.Pro1583Arg
ENST00000689177.1:n.6095C>G
ENST00000689849.1:c.919C>G
ENST00000689981.1:c.4823C>G	ENSP00000509035.1:p.Pro1608Arg
ENST00000690369.1:n.4841C>G
ENST00000690590.1:n.1870C>G
ENST00000690990.1:c.4817C>G	ENSP00000510461.1:p.Pro1606Arg
ENST00000691233.1:c.4742C>G	ENSP00000509215.1:p.Pro1581Arg
ENST00000691306.1:c.904C>G
ENST00000691345.1:n.2302+1484C>G
ENST00000691792.1:c.4811C>G	ENSP00000509911.1:p.Pro1604Arg
ENST00000691959.1:n.5542C>G
ENST00000692844.1:n.1907C>G
ENST00000692946.1:c.919C>G
ENST00000693052.1:c.4841C>G	ENSP00000509558.1:p.Pro1614Arg
ENST00000693289.1:n.1982C>G
ENST00000693440.1:c.4820C>G	ENSP00000509462.1:p.Pro1607Arg
ENST00000693499.1:n.5819C>G
ENST00000693591.1:n.3631C>G
ENST00000380817.8:c.4823C>G MANE Select	ENSP00000370196.2:p.Pro1608Arg
ENST00000348911.10:c.4748C>G	ENSP00000252027.7:p.Pro1583Arg
ENST00000380817.7:c.4823C>G	ENSP00000370196.2:p.Pro1608Arg
ENST00000418590.3:c.413-26C>G
ENST00000470434.1:n.964C>G
NM_002972.3:c.4823C>G	NP_002963.2:p.Pro1608Arg
XM_005261931.1:c.4826C>G	XP_005261988.1:p.Pro1609Arg
XM_005261935.1:c.4745C>G	XP_005261992.1:p.Pro1582Arg
XM_011530707.1:c.4925C>G	XP_011529009.1:p.Pro1642Arg
XM_011530708.1:c.4877C>G	XP_011529010.1:p.Pro1626Arg
XM_011530709.1:c.4853C>G	XP_011529011.1:p.Pro1618Arg
XM_011530710.1:c.4850C>G	XP_011529012.1:p.Pro1617Arg
XM_011530711.1:c.4850C>G	XP_011529013.1:p.Pro1617Arg
XR_938344.1:n.4943C>G
NM_001365819.1:c.4748C>G	NP_001352748.1:p.Pro1583Arg
XM_005261935.2:c.4745C>G	XP_005261992.1:p.Pro1582Arg
XM_011530709.2:c.4853C>G	XP_011529011.1:p.Pro1618Arg
XM_011530710.2:c.4850C>G	XP_011529012.1:p.Pro1617Arg
XM_017028905.2:c.4775C>G	XP_016884394.1:p.Pro1592Arg
NM_002972.4:c.4823C>G MANE Select	NP_002963.2:p.Pro1608Arg