Canonical Allele Identifier: CA412195399

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893558A>C (hg19) ; chr22:g.50455129A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455129A>C , CM000684.2:g.50455129A>C	GRCh38
NC_000022.10:g.50893558A>C , CM000684.1:g.50893558A>C	GRCh37
NC_000022.9:g.49240424A>C	NCBI36
NG_041810.1:g.24943T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4490T>G	ENSP00000252027.8:p.Phe1497Cys
ENST00000418590.4:c.200T>G	ENSP00000401538.2:p.Phe67Cys
ENST00000470434.2:n.971T>G
ENST00000684986.1:c.4571T>G	ENSP00000509117.1:p.Phe1524Cys
ENST00000685180.1:n.2488+5405T>G
ENST00000685390.1:n.2536T>G
ENST00000685411.1:n.318T>G
ENST00000685592.1:c.802T>G
ENST00000685809.1:c.4481T>G	ENSP00000508863.1:p.Phe1494Cys
ENST00000686029.1:c.646T>G
ENST00000686191.1:n.3768T>G
ENST00000686222.1:c.*3990T>G	ENSP00000508737.1:n.*3990T>G
ENST00000686321.1:c.664T>G
ENST00000686427.1:c.*1503T>G	ENSP00000510379.1:n.*1503T>G
ENST00000686758.1:n.2311T>G
ENST00000686801.1:c.4556T>G	ENSP00000509915.1:p.Phe1519Cys
ENST00000686826.1:n.887T>G
ENST00000687016.1:c.4469T>G	ENSP00000509074.1:p.Phe1490Cys
ENST00000687704.1:c.*2293T>G	ENSP00000510454.1:n.*2293T>G
ENST00000688066.1:c.4568T>G	ENSP00000510782.1:p.Phe1523Cys
ENST00000688124.1:c.*3486T>G	ENSP00000510645.1:n.*3486T>G
ENST00000688848.1:c.*3912T>G	ENSP00000509419.1:n.*3912T>G
ENST00000688985.1:c.1569T>G	ENSP00000510477.1:n.1569T>G
ENST00000689129.1:c.4493T>G	ENSP00000510414.1:p.Phe1498Cys
ENST00000689177.1:n.5840T>G
ENST00000689849.1:c.664T>G
ENST00000689981.1:c.4568T>G	ENSP00000509035.1:p.Phe1523Cys
ENST00000690369.1:n.4586T>G
ENST00000690590.1:n.1615T>G
ENST00000690990.1:c.4562T>G	ENSP00000510461.1:p.Phe1521Cys
ENST00000691233.1:c.4487T>G	ENSP00000509215.1:p.Phe1496Cys
ENST00000691306.1:c.666T>G
ENST00000691345.1:n.2302+1087T>G
ENST00000691792.1:c.4556T>G	ENSP00000509911.1:p.Phe1519Cys
ENST00000691959.1:n.5287T>G
ENST00000692844.1:n.1652T>G
ENST00000692946.1:c.664T>G
ENST00000693052.1:c.4586T>G	ENSP00000509558.1:p.Phe1529Cys
ENST00000693289.1:n.1727T>G
ENST00000693440.1:c.4565T>G	ENSP00000509462.1:p.Phe1522Cys
ENST00000693499.1:n.5493T>G
ENST00000693591.1:n.3305T>G
ENST00000380817.8:c.4568T>G MANE Select	ENSP00000370196.2:p.Phe1523Cys
ENST00000348911.10:c.4493T>G	ENSP00000252027.7:p.Phe1498Cys
ENST00000380817.7:c.4568T>G	ENSP00000370196.2:p.Phe1523Cys
ENST00000418590.3:c.168T>G
ENST00000470434.1:n.709T>G
NM_002972.3:c.4568T>G	NP_002963.2:p.Phe1523Cys
XM_005261931.1:c.4571T>G	XP_005261988.1:p.Phe1524Cys
XM_005261935.1:c.4490T>G	XP_005261992.1:p.Phe1497Cys
XM_011530707.1:c.4670T>G	XP_011529009.1:p.Phe1557Cys
XM_011530708.1:c.4622T>G	XP_011529010.1:p.Phe1541Cys
XM_011530709.1:c.4598T>G	XP_011529011.1:p.Phe1533Cys
XM_011530710.1:c.4595T>G	XP_011529012.1:p.Phe1532Cys
XM_011530711.1:c.4595T>G	XP_011529013.1:p.Phe1532Cys
XR_938344.1:n.4688T>G
NM_001365819.1:c.4493T>G	NP_001352748.1:p.Phe1498Cys
XM_005261935.2:c.4490T>G	XP_005261992.1:p.Phe1497Cys
XM_011530709.2:c.4598T>G	XP_011529011.1:p.Phe1533Cys
XM_011530710.2:c.4595T>G	XP_011529012.1:p.Phe1532Cys
XM_017028905.2:c.4520T>G	XP_016884394.1:p.Phe1507Cys
NM_002972.4:c.4568T>G MANE Select	NP_002963.2:p.Phe1523Cys