Canonical Allele Identifier: CA412192937

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454831-C-T
• MyVariant Identifiers: chr22:g.50893260C>T (hg19) ; chr22:g.50454831C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454831C>T , CM000684.2:g.50454831C>T	GRCh38
NC_000022.10:g.50893260C>T , CM000684.1:g.50893260C>T	GRCh37
NC_000022.9:g.49240126C>T	NCBI36
NG_041810.1:g.25241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4717G>A	ENSP00000252027.8:p.Ala1573Thr
ENST00000418590.4:c.427G>A	ENSP00000401538.2:p.Ala143Thr
ENST00000470434.2:n.1198G>A
ENST00000684986.1:c.4798G>A	ENSP00000509117.1:p.Ala1600Thr
ENST00000685180.1:n.2488+5703G>A
ENST00000685390.1:n.2763G>A
ENST00000685411.1:n.545G>A
ENST00000685592.1:c.1029G>A
ENST00000685809.1:c.4708G>A	ENSP00000508863.1:p.Ala1570Thr
ENST00000686029.1:c.873G>A
ENST00000686191.1:n.3995G>A
ENST00000686222.1:c.*4217G>A	ENSP00000508737.1:n.*4217G>A
ENST00000686321.1:c.891G>A
ENST00000686427.1:c.*1730G>A	ENSP00000510379.1:n.*1730G>A
ENST00000686758.1:n.2609G>A
ENST00000686801.1:c.4783G>A	ENSP00000509915.1:p.Ala1595Thr
ENST00000686826.1:n.1114G>A
ENST00000687016.1:c.4696G>A	ENSP00000509074.1:p.Ala1566Thr
ENST00000687704.1:c.*2520G>A	ENSP00000510454.1:n.*2520G>A
ENST00000688066.1:c.4795G>A	ENSP00000510782.1:p.Ala1599Thr
ENST00000688124.1:c.*3713G>A	ENSP00000510645.1:n.*3713G>A
ENST00000688848.1:c.*4139G>A	ENSP00000509419.1:n.*4139G>A
ENST00000688985.1:c.1796G>A	ENSP00000510477.1:n.1796G>A
ENST00000689129.1:c.4720G>A	ENSP00000510414.1:p.Ala1574Thr
ENST00000689177.1:n.6067G>A
ENST00000689849.1:c.891G>A
ENST00000689981.1:c.4795G>A	ENSP00000509035.1:p.Ala1599Thr
ENST00000690369.1:n.4813G>A
ENST00000690590.1:n.1842G>A
ENST00000690990.1:c.4789G>A	ENSP00000510461.1:p.Ala1597Thr
ENST00000691233.1:c.4714G>A	ENSP00000509215.1:p.Ala1572Thr
ENST00000691306.1:c.876G>A
ENST00000691345.1:n.2302+1385G>A
ENST00000691792.1:c.4783G>A	ENSP00000509911.1:p.Ala1595Thr
ENST00000691959.1:n.5514G>A
ENST00000692844.1:n.1879G>A
ENST00000692946.1:c.891G>A
ENST00000693052.1:c.4813G>A	ENSP00000509558.1:p.Ala1605Thr
ENST00000693289.1:n.1954G>A
ENST00000693440.1:c.4792G>A	ENSP00000509462.1:p.Ala1598Thr
ENST00000693499.1:n.5791G>A
ENST00000693591.1:n.3603G>A
ENST00000380817.8:c.4795G>A MANE Select	ENSP00000370196.2:p.Ala1599Thr
ENST00000348911.10:c.4720G>A	ENSP00000252027.7:p.Ala1574Thr
ENST00000380817.7:c.4795G>A	ENSP00000370196.2:p.Ala1599Thr
ENST00000418590.3:c.395G>A
ENST00000470434.1:n.936G>A
NM_002972.3:c.4795G>A	NP_002963.2:p.Ala1599Thr
XM_005261931.1:c.4798G>A	XP_005261988.1:p.Ala1600Thr
XM_005261935.1:c.4717G>A	XP_005261992.1:p.Ala1573Thr
XM_011530707.1:c.4897G>A	XP_011529009.1:p.Ala1633Thr
XM_011530708.1:c.4849G>A	XP_011529010.1:p.Ala1617Thr
XM_011530709.1:c.4825G>A	XP_011529011.1:p.Ala1609Thr
XM_011530710.1:c.4822G>A	XP_011529012.1:p.Ala1608Thr
XM_011530711.1:c.4822G>A	XP_011529013.1:p.Ala1608Thr
XR_938344.1:n.4915G>A
NM_001365819.1:c.4720G>A	NP_001352748.1:p.Ala1574Thr
XM_005261935.2:c.4717G>A	XP_005261992.1:p.Ala1573Thr
XM_011530709.2:c.4825G>A	XP_011529011.1:p.Ala1609Thr
XM_011530710.2:c.4822G>A	XP_011529012.1:p.Ala1608Thr
XM_017028905.2:c.4747G>A	XP_016884394.1:p.Ala1583Thr
NM_002972.4:c.4795G>A MANE Select	NP_002963.2:p.Ala1599Thr