Canonical Allele Identifier: CA325528104

Gene: SBF1

Linked Data

• dbSNP Id: rs372797638
• MyVariant Identifiers: chr22:g.50893556G>C (hg19) ; chr22:g.50455127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455127G>C , CM000684.2:g.50455127G>C	GRCh38
NC_000022.10:g.50893556G>C , CM000684.1:g.50893556G>C	GRCh37
NC_000022.9:g.49240422G>C	NCBI36
NG_041810.1:g.24945C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4492C>G	ENSP00000252027.8:p.Pro1498Ala
ENST00000418590.4:c.202C>G	ENSP00000401538.2:p.Pro68Ala
ENST00000470434.2:n.973C>G
ENST00000684986.1:c.4573C>G	ENSP00000509117.1:p.Pro1525Ala
ENST00000685180.1:n.2488+5407C>G
ENST00000685390.1:n.2538C>G
ENST00000685411.1:n.320C>G
ENST00000685592.1:c.804C>G
ENST00000685809.1:c.4483C>G	ENSP00000508863.1:p.Pro1495Ala
ENST00000686029.1:c.648C>G
ENST00000686191.1:n.3770C>G
ENST00000686222.1:c.*3992C>G	ENSP00000508737.1:n.*3992C>G
ENST00000686321.1:c.666C>G
ENST00000686427.1:c.*1505C>G	ENSP00000510379.1:n.*1505C>G
ENST00000686758.1:n.2313C>G
ENST00000686801.1:c.4558C>G	ENSP00000509915.1:p.Pro1520Ala
ENST00000686826.1:n.889C>G
ENST00000687016.1:c.4471C>G	ENSP00000509074.1:p.Pro1491Ala
ENST00000687704.1:c.*2295C>G	ENSP00000510454.1:n.*2295C>G
ENST00000688066.1:c.4570C>G	ENSP00000510782.1:p.Pro1524Ala
ENST00000688124.1:c.*3488C>G	ENSP00000510645.1:n.*3488C>G
ENST00000688848.1:c.*3914C>G	ENSP00000509419.1:n.*3914C>G
ENST00000688985.1:c.1571C>G	ENSP00000510477.1:n.1571C>G
ENST00000689129.1:c.4495C>G	ENSP00000510414.1:p.Pro1499Ala
ENST00000689177.1:n.5842C>G
ENST00000689849.1:c.666C>G
ENST00000689981.1:c.4570C>G	ENSP00000509035.1:p.Pro1524Ala
ENST00000690369.1:n.4588C>G
ENST00000690590.1:n.1617C>G
ENST00000690990.1:c.4564C>G	ENSP00000510461.1:p.Pro1522Ala
ENST00000691233.1:c.4489C>G	ENSP00000509215.1:p.Pro1497Ala
ENST00000691306.1:c.668C>G
ENST00000691345.1:n.2302+1089C>G
ENST00000691792.1:c.4558C>G	ENSP00000509911.1:p.Pro1520Ala
ENST00000691959.1:n.5289C>G
ENST00000692844.1:n.1654C>G
ENST00000692946.1:c.666C>G
ENST00000693052.1:c.4588C>G	ENSP00000509558.1:p.Pro1530Ala
ENST00000693289.1:n.1729C>G
ENST00000693440.1:c.4567C>G	ENSP00000509462.1:p.Pro1523Ala
ENST00000693499.1:n.5495C>G
ENST00000693591.1:n.3307C>G
ENST00000380817.8:c.4570C>G MANE Select	ENSP00000370196.2:p.Pro1524Ala
ENST00000348911.10:c.4495C>G	ENSP00000252027.7:p.Pro1499Ala
ENST00000380817.7:c.4570C>G	ENSP00000370196.2:p.Pro1524Ala
ENST00000418590.3:c.170C>G
ENST00000470434.1:n.711C>G
NM_002972.3:c.4570C>G	NP_002963.2:p.Pro1524Ala
XM_005261931.1:c.4573C>G	XP_005261988.1:p.Pro1525Ala
XM_005261935.1:c.4492C>G	XP_005261992.1:p.Pro1498Ala
XM_011530707.1:c.4672C>G	XP_011529009.1:p.Pro1558Ala
XM_011530708.1:c.4624C>G	XP_011529010.1:p.Pro1542Ala
XM_011530709.1:c.4600C>G	XP_011529011.1:p.Pro1534Ala
XM_011530710.1:c.4597C>G	XP_011529012.1:p.Pro1533Ala
XM_011530711.1:c.4597C>G	XP_011529013.1:p.Pro1533Ala
XR_938344.1:n.4690C>G
NM_001365819.1:c.4495C>G	NP_001352748.1:p.Pro1499Ala
XM_005261935.2:c.4492C>G	XP_005261992.1:p.Pro1498Ala
XM_011530709.2:c.4600C>G	XP_011529011.1:p.Pro1534Ala
XM_011530710.2:c.4597C>G	XP_011529012.1:p.Pro1533Ala
XM_017028905.2:c.4522C>G	XP_016884394.1:p.Pro1508Ala
NM_002972.4:c.4570C>G MANE Select	NP_002963.2:p.Pro1524Ala