Canonical Allele Identifier: CA412192741

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893162G>T (hg19) ; chr22:g.50454733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454733G>T , CM000684.2:g.50454733G>T	GRCh38
NC_000022.10:g.50893162G>T , CM000684.1:g.50893162G>T	GRCh37
NC_000022.9:g.49240028G>T	NCBI36
NG_041810.1:g.25339C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4744C>A	ENSP00000252027.8:p.Pro1582Thr
ENST00000418590.4:c.445-27C>A	ENSP00000401538.2:n.445-27C>A
ENST00000470434.2:n.1225C>A
ENST00000684986.1:c.4825C>A	ENSP00000509117.1:p.Pro1609Thr
ENST00000685180.1:n.2488+5801C>A
ENST00000685390.1:n.2781-8C>A
ENST00000685411.1:n.572C>A
ENST00000685592.1:c.1056C>A
ENST00000685809.1:c.4735C>A	ENSP00000508863.1:p.Pro1579Thr
ENST00000686191.1:n.4022C>A
ENST00000686222.1:c.*4244C>A	ENSP00000508737.1:n.*4244C>A
ENST00000686321.1:c.918C>A
ENST00000686427.1:c.*1757C>A	ENSP00000510379.1:n.*1757C>A
ENST00000686758.1:n.2636C>A
ENST00000686801.1:c.4810C>A	ENSP00000509915.1:p.Pro1604Thr
ENST00000686826.1:n.1141C>A
ENST00000687016.1:c.4723C>A	ENSP00000509074.1:p.Pro1575Thr
ENST00000687704.1:c.*2618C>A	ENSP00000510454.1:n.*2618C>A
ENST00000688066.1:c.4822C>A	ENSP00000510782.1:p.Pro1608Thr
ENST00000688124.1:c.*3731-8C>A	ENSP00000510645.1:n.*3731-8C>A
ENST00000688848.1:c.*4166C>A	ENSP00000509419.1:n.*4166C>A
ENST00000688985.1:c.1823C>A	ENSP00000510477.1:n.1823C>A
ENST00000689129.1:c.4747C>A	ENSP00000510414.1:p.Pro1583Thr
ENST00000689177.1:n.6094C>A
ENST00000689849.1:c.918C>A
ENST00000689981.1:c.4822C>A	ENSP00000509035.1:p.Pro1608Thr
ENST00000690369.1:n.4840C>A
ENST00000690590.1:n.1869C>A
ENST00000690990.1:c.4816C>A	ENSP00000510461.1:p.Pro1606Thr
ENST00000691233.1:c.4741C>A	ENSP00000509215.1:p.Pro1581Thr
ENST00000691306.1:c.903C>A
ENST00000691345.1:n.2302+1483C>A
ENST00000691792.1:c.4810C>A	ENSP00000509911.1:p.Pro1604Thr
ENST00000691959.1:n.5541C>A
ENST00000692844.1:n.1906C>A
ENST00000692946.1:c.918C>A
ENST00000693052.1:c.4840C>A	ENSP00000509558.1:p.Pro1614Thr
ENST00000693289.1:n.1981C>A
ENST00000693440.1:c.4819C>A	ENSP00000509462.1:p.Pro1607Thr
ENST00000693499.1:n.5818C>A
ENST00000693591.1:n.3630C>A
ENST00000380817.8:c.4822C>A MANE Select	ENSP00000370196.2:p.Pro1608Thr
ENST00000348911.10:c.4747C>A	ENSP00000252027.7:p.Pro1583Thr
ENST00000380817.7:c.4822C>A	ENSP00000370196.2:p.Pro1608Thr
ENST00000418590.3:c.413-27C>A
ENST00000470434.1:n.963C>A
NM_002972.3:c.4822C>A	NP_002963.2:p.Pro1608Thr
XM_005261931.1:c.4825C>A	XP_005261988.1:p.Pro1609Thr
XM_005261935.1:c.4744C>A	XP_005261992.1:p.Pro1582Thr
XM_011530707.1:c.4924C>A	XP_011529009.1:p.Pro1642Thr
XM_011530708.1:c.4876C>A	XP_011529010.1:p.Pro1626Thr
XM_011530709.1:c.4852C>A	XP_011529011.1:p.Pro1618Thr
XM_011530710.1:c.4849C>A	XP_011529012.1:p.Pro1617Thr
XM_011530711.1:c.4849C>A	XP_011529013.1:p.Pro1617Thr
XR_938344.1:n.4942C>A
NM_001365819.1:c.4747C>A	NP_001352748.1:p.Pro1583Thr
XM_005261935.2:c.4744C>A	XP_005261992.1:p.Pro1582Thr
XM_011530709.2:c.4852C>A	XP_011529011.1:p.Pro1618Thr
XM_011530710.2:c.4849C>A	XP_011529012.1:p.Pro1617Thr
XM_017028905.2:c.4774C>A	XP_016884394.1:p.Pro1592Thr
NM_002972.4:c.4822C>A MANE Select	NP_002963.2:p.Pro1608Thr