Canonical Allele Identifier: CA412194598

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893519A>C (hg19) ; chr22:g.50455090A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455090A>C , CM000684.2:g.50455090A>C	GRCh38
NC_000022.10:g.50893519A>C , CM000684.1:g.50893519A>C	GRCh37
NC_000022.9:g.49240385A>C	NCBI36
NG_041810.1:g.24982T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4529T>G	ENSP00000252027.8:p.Phe1510Cys
ENST00000418590.4:c.239T>G	ENSP00000401538.2:p.Phe80Cys
ENST00000470434.2:n.1010T>G
ENST00000684986.1:c.4610T>G	ENSP00000509117.1:p.Phe1537Cys
ENST00000685180.1:n.2488+5444T>G
ENST00000685390.1:n.2575T>G
ENST00000685411.1:n.357T>G
ENST00000685592.1:c.841T>G
ENST00000685809.1:c.4520T>G	ENSP00000508863.1:p.Phe1507Cys
ENST00000686029.1:c.685T>G
ENST00000686191.1:n.3807T>G
ENST00000686222.1:c.*4029T>G	ENSP00000508737.1:n.*4029T>G
ENST00000686321.1:c.703T>G
ENST00000686427.1:c.*1542T>G	ENSP00000510379.1:n.*1542T>G
ENST00000686758.1:n.2350T>G
ENST00000686801.1:c.4595T>G	ENSP00000509915.1:p.Phe1532Cys
ENST00000686826.1:n.926T>G
ENST00000687016.1:c.4508T>G	ENSP00000509074.1:p.Phe1503Cys
ENST00000687704.1:c.*2332T>G	ENSP00000510454.1:n.*2332T>G
ENST00000688066.1:c.4607T>G	ENSP00000510782.1:p.Phe1536Cys
ENST00000688124.1:c.*3525T>G	ENSP00000510645.1:n.*3525T>G
ENST00000688848.1:c.*3951T>G	ENSP00000509419.1:n.*3951T>G
ENST00000688985.1:c.1608T>G	ENSP00000510477.1:n.1608T>G
ENST00000689129.1:c.4532T>G	ENSP00000510414.1:p.Phe1511Cys
ENST00000689177.1:n.5879T>G
ENST00000689849.1:c.703T>G
ENST00000689981.1:c.4607T>G	ENSP00000509035.1:p.Phe1536Cys
ENST00000690369.1:n.4625T>G
ENST00000690590.1:n.1654T>G
ENST00000690990.1:c.4601T>G	ENSP00000510461.1:p.Phe1534Cys
ENST00000691233.1:c.4526T>G	ENSP00000509215.1:p.Phe1509Cys
ENST00000691306.1:c.705T>G
ENST00000691345.1:n.2302+1126T>G
ENST00000691792.1:c.4595T>G	ENSP00000509911.1:p.Phe1532Cys
ENST00000691959.1:n.5326T>G
ENST00000692844.1:n.1691T>G
ENST00000692946.1:c.703T>G
ENST00000693052.1:c.4625T>G	ENSP00000509558.1:p.Phe1542Cys
ENST00000693289.1:n.1766T>G
ENST00000693440.1:c.4604T>G	ENSP00000509462.1:p.Phe1535Cys
ENST00000693499.1:n.5532T>G
ENST00000693591.1:n.3344T>G
ENST00000380817.8:c.4607T>G MANE Select	ENSP00000370196.2:p.Phe1536Cys
ENST00000348911.10:c.4532T>G	ENSP00000252027.7:p.Phe1511Cys
ENST00000380817.7:c.4607T>G	ENSP00000370196.2:p.Phe1536Cys
ENST00000418590.3:c.207T>G
ENST00000470434.1:n.748T>G
NM_002972.3:c.4607T>G	NP_002963.2:p.Phe1536Cys
XM_005261931.1:c.4610T>G	XP_005261988.1:p.Phe1537Cys
XM_005261935.1:c.4529T>G	XP_005261992.1:p.Phe1510Cys
XM_011530707.1:c.4709T>G	XP_011529009.1:p.Phe1570Cys
XM_011530708.1:c.4661T>G	XP_011529010.1:p.Phe1554Cys
XM_011530709.1:c.4637T>G	XP_011529011.1:p.Phe1546Cys
XM_011530710.1:c.4634T>G	XP_011529012.1:p.Phe1545Cys
XM_011530711.1:c.4634T>G	XP_011529013.1:p.Phe1545Cys
XR_938344.1:n.4727T>G
NM_001365819.1:c.4532T>G	NP_001352748.1:p.Phe1511Cys
XM_005261935.2:c.4529T>G	XP_005261992.1:p.Phe1510Cys
XM_011530709.2:c.4637T>G	XP_011529011.1:p.Phe1546Cys
XM_011530710.2:c.4634T>G	XP_011529012.1:p.Phe1545Cys
XM_017028905.2:c.4559T>G	XP_016884394.1:p.Phe1520Cys
NM_002972.4:c.4607T>G MANE Select	NP_002963.2:p.Phe1536Cys