Canonical Allele Identifier: CA412195393

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893556G>T (hg19) ; chr22:g.50455127G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4492C>A	ENSP00000252027.8:p.Pro1498Thr
ENST00000418590.4:c.202C>A	ENSP00000401538.2:p.Pro68Thr
ENST00000470434.2:n.973C>A
ENST00000684986.1:c.4573C>A	ENSP00000509117.1:p.Pro1525Thr
ENST00000685180.1:n.2488+5407C>A
ENST00000685390.1:n.2538C>A
ENST00000685411.1:n.320C>A
ENST00000685592.1:c.804C>A
ENST00000685809.1:c.4483C>A	ENSP00000508863.1:p.Pro1495Thr
ENST00000686029.1:c.648C>A
ENST00000686191.1:n.3770C>A
ENST00000686222.1:c.*3992C>A	ENSP00000508737.1:n.*3992C>A
ENST00000686321.1:c.666C>A
ENST00000686427.1:c.*1505C>A	ENSP00000510379.1:n.*1505C>A
ENST00000686758.1:n.2313C>A
ENST00000686801.1:c.4558C>A	ENSP00000509915.1:p.Pro1520Thr
ENST00000686826.1:n.889C>A
ENST00000687016.1:c.4471C>A	ENSP00000509074.1:p.Pro1491Thr
ENST00000687704.1:c.*2295C>A	ENSP00000510454.1:n.*2295C>A
ENST00000688066.1:c.4570C>A	ENSP00000510782.1:p.Pro1524Thr
ENST00000688124.1:c.*3488C>A	ENSP00000510645.1:n.*3488C>A
ENST00000688848.1:c.*3914C>A	ENSP00000509419.1:n.*3914C>A
ENST00000688985.1:c.1571C>A	ENSP00000510477.1:n.1571C>A
ENST00000689129.1:c.4495C>A	ENSP00000510414.1:p.Pro1499Thr
ENST00000689177.1:n.5842C>A
ENST00000689849.1:c.666C>A
ENST00000689981.1:c.4570C>A	ENSP00000509035.1:p.Pro1524Thr
ENST00000690369.1:n.4588C>A
ENST00000690590.1:n.1617C>A
ENST00000690990.1:c.4564C>A	ENSP00000510461.1:p.Pro1522Thr
ENST00000691233.1:c.4489C>A	ENSP00000509215.1:p.Pro1497Thr
ENST00000691306.1:c.668C>A
ENST00000691345.1:n.2302+1089C>A
ENST00000691792.1:c.4558C>A	ENSP00000509911.1:p.Pro1520Thr
ENST00000691959.1:n.5289C>A
ENST00000692844.1:n.1654C>A
ENST00000692946.1:c.666C>A
ENST00000693052.1:c.4588C>A	ENSP00000509558.1:p.Pro1530Thr
ENST00000693289.1:n.1729C>A
ENST00000693440.1:c.4567C>A	ENSP00000509462.1:p.Pro1523Thr
ENST00000693499.1:n.5495C>A
ENST00000693591.1:n.3307C>A
ENST00000380817.8:c.4570C>A MANE Select	ENSP00000370196.2:p.Pro1524Thr
ENST00000348911.10:c.4495C>A	ENSP00000252027.7:p.Pro1499Thr
ENST00000380817.7:c.4570C>A	ENSP00000370196.2:p.Pro1524Thr
ENST00000418590.3:c.170C>A
ENST00000470434.1:n.711C>A
NM_002972.3:c.4570C>A	NP_002963.2:p.Pro1524Thr
XM_005261931.1:c.4573C>A	XP_005261988.1:p.Pro1525Thr
XM_005261935.1:c.4492C>A	XP_005261992.1:p.Pro1498Thr
XM_011530707.1:c.4672C>A	XP_011529009.1:p.Pro1558Thr
XM_011530708.1:c.4624C>A	XP_011529010.1:p.Pro1542Thr
XM_011530709.1:c.4600C>A	XP_011529011.1:p.Pro1534Thr
XM_011530710.1:c.4597C>A	XP_011529012.1:p.Pro1533Thr
XM_011530711.1:c.4597C>A	XP_011529013.1:p.Pro1533Thr
XR_938344.1:n.4690C>A
NM_001365819.1:c.4495C>A	NP_001352748.1:p.Pro1499Thr
XM_005261935.2:c.4492C>A	XP_005261992.1:p.Pro1498Thr
XM_011530709.2:c.4600C>A	XP_011529011.1:p.Pro1534Thr
XM_011530710.2:c.4597C>A	XP_011529012.1:p.Pro1533Thr
XM_017028905.2:c.4522C>A	XP_016884394.1:p.Pro1508Thr
NM_002972.4:c.4570C>A MANE Select	NP_002963.2:p.Pro1524Thr