Canonical Allele Identifier: CA412193045

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893277A>C (hg19) ; chr22:g.50454848A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454848A>C , CM000684.2:g.50454848A>C	GRCh38
NC_000022.10:g.50893277A>C , CM000684.1:g.50893277A>C	GRCh37
NC_000022.9:g.49240143A>C	NCBI36
NG_041810.1:g.25224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4700T>G	ENSP00000252027.8:p.Phe1567Cys
ENST00000418590.4:c.410T>G	ENSP00000401538.2:p.Phe137Cys
ENST00000470434.2:n.1181T>G
ENST00000684986.1:c.4781T>G	ENSP00000509117.1:p.Phe1594Cys
ENST00000685180.1:n.2488+5686T>G
ENST00000685390.1:n.2746T>G
ENST00000685411.1:n.528T>G
ENST00000685592.1:c.1012T>G
ENST00000685809.1:c.4691T>G	ENSP00000508863.1:p.Phe1564Cys
ENST00000686029.1:c.856T>G
ENST00000686191.1:n.3978T>G
ENST00000686222.1:c.*4200T>G	ENSP00000508737.1:n.*4200T>G
ENST00000686321.1:c.874T>G
ENST00000686427.1:c.*1713T>G	ENSP00000510379.1:n.*1713T>G
ENST00000686758.1:n.2592T>G
ENST00000686801.1:c.4766T>G	ENSP00000509915.1:p.Phe1589Cys
ENST00000686826.1:n.1097T>G
ENST00000687016.1:c.4679T>G	ENSP00000509074.1:p.Phe1560Cys
ENST00000687704.1:c.*2503T>G	ENSP00000510454.1:n.*2503T>G
ENST00000688066.1:c.4778T>G	ENSP00000510782.1:p.Phe1593Cys
ENST00000688124.1:c.*3696T>G	ENSP00000510645.1:n.*3696T>G
ENST00000688848.1:c.*4122T>G	ENSP00000509419.1:n.*4122T>G
ENST00000688985.1:c.1779T>G	ENSP00000510477.1:n.1779T>G
ENST00000689129.1:c.4703T>G	ENSP00000510414.1:p.Phe1568Cys
ENST00000689177.1:n.6050T>G
ENST00000689849.1:c.874T>G
ENST00000689981.1:c.4778T>G	ENSP00000509035.1:p.Phe1593Cys
ENST00000690369.1:n.4796T>G
ENST00000690590.1:n.1825T>G
ENST00000690990.1:c.4772T>G	ENSP00000510461.1:p.Phe1591Cys
ENST00000691233.1:c.4697T>G	ENSP00000509215.1:p.Phe1566Cys
ENST00000691306.1:c.859T>G
ENST00000691345.1:n.2302+1368T>G
ENST00000691792.1:c.4766T>G	ENSP00000509911.1:p.Phe1589Cys
ENST00000691959.1:n.5497T>G
ENST00000692844.1:n.1862T>G
ENST00000692946.1:c.874T>G
ENST00000693052.1:c.4796T>G	ENSP00000509558.1:p.Phe1599Cys
ENST00000693289.1:n.1937T>G
ENST00000693440.1:c.4775T>G	ENSP00000509462.1:p.Phe1592Cys
ENST00000693499.1:n.5774T>G
ENST00000693591.1:n.3586T>G
ENST00000380817.8:c.4778T>G MANE Select	ENSP00000370196.2:p.Phe1593Cys
ENST00000348911.10:c.4703T>G	ENSP00000252027.7:p.Phe1568Cys
ENST00000380817.7:c.4778T>G	ENSP00000370196.2:p.Phe1593Cys
ENST00000418590.3:c.378T>G
ENST00000470434.1:n.919T>G
NM_002972.3:c.4778T>G	NP_002963.2:p.Phe1593Cys
XM_005261931.1:c.4781T>G	XP_005261988.1:p.Phe1594Cys
XM_005261935.1:c.4700T>G	XP_005261992.1:p.Phe1567Cys
XM_011530707.1:c.4880T>G	XP_011529009.1:p.Phe1627Cys
XM_011530708.1:c.4832T>G	XP_011529010.1:p.Phe1611Cys
XM_011530709.1:c.4808T>G	XP_011529011.1:p.Phe1603Cys
XM_011530710.1:c.4805T>G	XP_011529012.1:p.Phe1602Cys
XM_011530711.1:c.4805T>G	XP_011529013.1:p.Phe1602Cys
XR_938344.1:n.4898T>G
NM_001365819.1:c.4703T>G	NP_001352748.1:p.Phe1568Cys
XM_005261935.2:c.4700T>G	XP_005261992.1:p.Phe1567Cys
XM_011530709.2:c.4808T>G	XP_011529011.1:p.Phe1603Cys
XM_011530710.2:c.4805T>G	XP_011529012.1:p.Phe1602Cys
XM_017028905.2:c.4730T>G	XP_016884394.1:p.Phe1577Cys
NM_002972.4:c.4778T>G MANE Select	NP_002963.2:p.Phe1593Cys